LMX1B_HUMAN
ID LMX1B_HUMAN Reviewed; 402 AA.
AC O60663; F8W7W6; O75463; Q5JU95; Q6ISC9;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2013, sequence version 3.
DT 03-AUG-2022, entry version 197.
DE RecName: Full=LIM homeobox transcription factor 1-beta;
DE AltName: Full=LIM/homeobox protein 1.2;
DE Short=LMX-1.2;
DE AltName: Full=LIM/homeobox protein LMX1B;
GN Name=LMX1B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANT NPS PHE-118.
RX PubMed=9618165; DOI=10.1093/hmg/7.7.1091;
RA Vollrath D., Jaramillo-Babb V.L., Clough M.V., McIntosh I., Scott K.M.,
RA Lichter P.R., Richards J.E.;
RT "Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-
RT patella syndrome.";
RL Hum. Mol. Genet. 7:1091-1098(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-402 (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 24-402 (ISOFORM 2), AND VARIANT NPS LYS-269.
RX PubMed=9590287; DOI=10.1038/ng0598-47;
RA Dreyer S.D., Zhou G., Baldini A., Winterpacht A., Zabel B., Cole W.,
RA Johnson R.L., Lee B.;
RT "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia
RT in nail patella syndrome.";
RL Nat. Genet. 19:47-50(1998).
RN [6]
RP INTERACTION WITH DHX9.
RX PubMed=23308148; DOI=10.1371/journal.pone.0053122;
RA Hoekstra E.J., Mesman S., de Munnik W.A., Smidt M.P.;
RT "LMX1B is part of a transcriptional complex with PSPC1 and PSF.";
RL PLoS ONE 8:E53122-E53122(2013).
RN [7]
RP VARIANTS NPS TRP-165; GLN-223; PRO-236; PRO-241; PRO-249; VAL-253 AND
RP LYS-269.
RX PubMed=9837817; DOI=10.1086/302165;
RA McIntosh I., Dreyer S.D., Clough M.V., Dunston J.A., Eyaid W., Roig C.M.,
RA Montgomery T., Ala-Mello S., Kaitila I., Winterpacht A., Zabel B.,
RA Frydman M., Cole W.G., Francomano C.A., Lee B.;
RT "Mutation analysis of LMX1B gene in nail-patella syndrome patients.";
RL Am. J. Hum. Genet. 63:1651-1658(1998).
RN [8]
RP VARIANTS NPS ARG-59; SER-59; GLN-77; TYR-77; ARG-80; GLY-83; TYR-83;
RP ARG-86; GLY-106; TYR-118; SER-143; PHE-146; TYR-146 AND PRO-252.
RX PubMed=10571942;
RX DOI=10.1002/(sici)1098-1004(199912)14:6<459::aid-humu3>3.0.co;2-9;
RA Clough M.V., Hamlington J.D., McIntosh I.;
RT "Restricted distribution of loss-of-function mutations within the LMX1B
RT genes of nail-patella syndrome patients.";
RL Hum. Mutat. 14:459-465(1999).
RN [9]
RP VARIANTS NPS ASN-77; TRP-81; PHE-83; TRP-83; TRP-103; TYR-118; TYR-137;
RP TYR-140; GLN-223; PRO-236; CYS-266 AND LYS-269.
RX PubMed=11668639; DOI=10.1002/humu.1217.abs;
RA Hamlington J.D., Jones C., McIntosh I.;
RT "Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS)
RT patients.";
RL Hum. Mutat. 18:458-458(2001).
RN [10]
RP VARIANTS FSGS10 GLN-246 AND PRO-246, AND INVOLVEMENT IN FSGS10.
RX PubMed=23687361; DOI=10.1681/asn.2013020171;
RA Boyer O., Woerner S., Yang F., Oakeley E.J., Linghu B., Gribouval O.,
RA Tete M.J., Duca J.S., Klickstein L., Damask A.J., Szustakowski J.D.,
RA Heibel F., Matignon M., Baudouin V., Chantrel F., Champigneulle J.,
RA Martin L., Nitschke P., Gubler M.C., Johnson K.J., Chibout S.D.,
RA Antignac C.;
RT "LMX1B mutations cause hereditary FSGS without extrarenal involvement.";
RL J. Am. Soc. Nephrol. 24:1216-1222(2013).
RN [11]
RP VARIANT FSGS10 GLN-246, CHARACTERIZATION OF VARIANT FSGS10 GLN-246,
RP INVOLVEMENT IN FSGS10, FUNCTION, AND MUTAGENESIS OF VAL-265.
RX PubMed=24042019; DOI=10.1093/ndt/gft359;
RA Isojima T., Harita Y., Furuyama M., Sugawara N., Ishizuka K., Horita S.,
RA Kajiho Y., Miura K., Igarashi T., Hattori M., Kitanaka S.;
RT "LMX1B mutation with residual transcriptional activity as a cause of
RT isolated glomerulopathy.";
RL Nephrol. Dial. Transplant. 29:81-88(2014).
RN [12]
RP VARIANT FSGS10 GLN-246, AND INVOLVEMENT IN FSGS10.
RX PubMed=26560070; DOI=10.1111/nep.12666;
RA Konomoto T., Imamura H., Orita M., Tanaka E., Moritake H., Sato Y.,
RA Fujimoto S., Harita Y., Hisano S., Yoshiura K., Nunoi H.;
RT "Clinical and histological findings of autosomal dominant renal-limited
RT disease with LMX1B mutation.";
RL Nephrology 21:765-773(2016).
RN [13]
RP VARIANT FSGS10 GLN-246, INVOLVEMENT IN FSGS10, AND FUNCTION.
RX PubMed=28059119; DOI=10.1038/srep39933;
RA Hall G., Lane B., Chryst-Ladd M., Wu G., Lin J.J., Qin X., Hauser E.R.,
RA Gbadegesin R.;
RT "Dysregulation of WTI (-KTS) is associated with the kidney-specific effects
RT of the LMX1B R246Q mutation.";
RL Sci. Rep. 7:39933-39933(2017).
RN [14]
RP VARIANT FSGS10 GLN-246.
RX PubMed=32791958; DOI=10.1186/s12882-020-02012-3;
RA Pinto E Vairo F., Pichurin P.N., Fervenza F.C., Nasr S.H., Mills K.,
RA Schmitz C.T., Klee E.W., Herrmann S.M.;
RT "Nail-patella-like renal disease masquerading as Fabry disease on kidney
RT biopsy: a case report.";
RL BMC Nephrol. 21:341-341(2020).
RN [15]
RP VARIANT FSGS10 GLN-246.
RX PubMed=32356190; DOI=10.1007/s00467-020-04564-w;
RA Lei L., Oh G., Sutherland S., Abra G., Higgins J., Sibley R., Troxell M.,
RA Kambham N.;
RT "Myelin bodies in LMX1B-associated nephropathy: potential for
RT misdiagnosis.";
RL Pediatr. Nephrol. 35:1647-1657(2020).
CC -!- FUNCTION: Transcription factor involved in the regulation of podocyte-
CC expressed genes (PubMed:24042019, PubMed:28059119). Essential for the
CC specification of dorsal limb fate at both the zeugopodal and autopodal
CC levels. {ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:28059119}.
CC -!- SUBUNIT: Interacts with DHX9 (PubMed:23308148).
CC {ECO:0000269|PubMed:23308148}.
CC -!- INTERACTION:
CC O60663-2; Q02930-3: CREB5; NbExp=3; IntAct=EBI-10258690, EBI-10192698;
CC O60663-2; P49639: HOXA1; NbExp=3; IntAct=EBI-10258690, EBI-740785;
CC O60663-2; Q86U70: LDB1; NbExp=3; IntAct=EBI-10258690, EBI-677177;
CC O60663-2; Q86U70-2: LDB1; NbExp=4; IntAct=EBI-10258690, EBI-11979761;
CC O60663-2; Q02962: PAX2; NbExp=3; IntAct=EBI-10258690, EBI-1805765;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=Long;
CC IsoId=O60663-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=O60663-2; Sequence=VSP_003113;
CC Name=3;
CC IsoId=O60663-3; Sequence=VSP_046472, VSP_003113;
CC -!- TISSUE SPECIFICITY: Expressed in most tissues. Highest levels in
CC testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
CC -!- DISEASE: Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause
CC abnormal skeletal patterning and renal dysplasia.
CC {ECO:0000269|PubMed:10571942, ECO:0000269|PubMed:11668639,
CC ECO:0000269|PubMed:9590287, ECO:0000269|PubMed:9618165,
CC ECO:0000269|PubMed:9837817}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020]:
CC An autosomal dominant form of focal segmental glomerulosclerosis, a
CC renal pathology defined by the presence of segmental sclerosis in
CC glomeruli and resulting in proteinuria, reduced glomerular filtration
CC rate and progressive decline in renal function. Renal insufficiency
CC often progresses to end-stage renal disease, a highly morbid state
CC requiring either dialysis therapy or kidney transplantation.
CC {ECO:0000269|PubMed:23687361, ECO:0000269|PubMed:24042019,
CC ECO:0000269|PubMed:26560070, ECO:0000269|PubMed:28059119,
CC ECO:0000269|PubMed:32356190, ECO:0000269|PubMed:32791958}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC27294.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAC39738.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH69601.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI12121.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI13492.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW87642.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF059575; AAC27294.1; ALT_INIT; Genomic_DNA.
DR EMBL; AF059572; AAC27294.1; JOINED; Genomic_DNA.
DR EMBL; AF059573; AAC27294.1; JOINED; Genomic_DNA.
DR EMBL; AF059574; AAC27294.1; JOINED; Genomic_DNA.
DR EMBL; AL161731; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL161908; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87642.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC069601; AAH69601.1; ALT_INIT; mRNA.
DR EMBL; BC112120; AAI12121.1; ALT_INIT; mRNA.
DR EMBL; BC113491; AAI13492.1; ALT_INIT; mRNA.
DR EMBL; AF057135; AAC39738.1; ALT_INIT; mRNA.
DR CCDS; CCDS55342.1; -. [O60663-1]
DR CCDS; CCDS55343.1; -. [O60663-3]
DR CCDS; CCDS6866.2; -. [O60663-2]
DR RefSeq; NP_001167618.1; NM_001174147.1. [O60663-1]
DR RefSeq; NP_002307.2; NM_002316.3. [O60663-2]
DR AlphaFoldDB; O60663; -.
DR SMR; O60663; -.
DR BioGRID; 110195; 100.
DR IntAct; O60663; 20.
DR STRING; 9606.ENSP00000347684; -.
DR iPTMnet; O60663; -.
DR PhosphoSitePlus; O60663; -.
DR BioMuta; LMX1B; -.
DR MassIVE; O60663; -.
DR PaxDb; O60663; -.
DR PeptideAtlas; O60663; -.
DR PRIDE; O60663; -.
DR ProteomicsDB; 30025; -.
DR ProteomicsDB; 49506; -. [O60663-1]
DR ProteomicsDB; 49507; -. [O60663-2]
DR Antibodypedia; 30610; 286 antibodies from 36 providers.
DR DNASU; 4010; -.
DR Ensembl; ENST00000355497.10; ENSP00000347684.5; ENSG00000136944.19. [O60663-3]
DR Ensembl; ENST00000373474.9; ENSP00000362573.3; ENSG00000136944.19. [O60663-1]
DR Ensembl; ENST00000526117.6; ENSP00000436930.1; ENSG00000136944.19. [O60663-2]
DR GeneID; 4010; -.
DR KEGG; hsa:4010; -.
DR MANE-Select; ENST00000373474.9; ENSP00000362573.3; NM_001174147.2; NP_001167618.1.
DR UCSC; uc004bqi.4; human. [O60663-1]
DR CTD; 4010; -.
DR DisGeNET; 4010; -.
DR GeneCards; LMX1B; -.
DR GeneReviews; LMX1B; -.
DR HGNC; HGNC:6654; LMX1B.
DR HPA; ENSG00000136944; Tissue enhanced (brain, salivary gland).
DR MalaCards; LMX1B; -.
DR MIM; 161200; phenotype.
DR MIM; 256020; phenotype.
DR MIM; 602575; gene.
DR neXtProt; NX_O60663; -.
DR OpenTargets; ENSG00000136944; -.
DR Orphanet; 495818; 9q33.3q34.11 microdeletion syndrome.
DR Orphanet; 2614; Nail-patella syndrome.
DR Orphanet; 2613; Nail-patella-like renal disease.
DR PharmGKB; PA30417; -.
DR VEuPathDB; HostDB:ENSG00000136944; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000157955; -.
DR InParanoid; O60663; -.
DR OMA; LLCKVDY; -.
DR TreeFam; TF315442; -.
DR PathwayCommons; O60663; -.
DR SignaLink; O60663; -.
DR SIGNOR; O60663; -.
DR BioGRID-ORCS; 4010; 14 hits in 1097 CRISPR screens.
DR ChiTaRS; LMX1B; human.
DR GeneWiki; LMX1B; -.
DR GenomeRNAi; 4010; -.
DR Pharos; O60663; Tbio.
DR PRO; PR:O60663; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; O60663; protein.
DR Bgee; ENSG00000136944; Expressed in sural nerve and 49 other tissues.
DR Genevisible; O60663; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; ISS:ParkinsonsUK-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0071542; P:dopaminergic neuron differentiation; ISS:ParkinsonsUK-UCL.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB.
DR GO; GO:0030182; P:neuron differentiation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:ParkinsonsUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR001781; Znf_LIM.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00412; LIM; 2.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00132; LIM; 2.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00478; LIM_DOMAIN_1; 2.
DR PROSITE; PS50023; LIM_DOMAIN_2; 2.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Developmental protein; Disease variant;
KW DNA-binding; Homeobox; LIM domain; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc.
FT CHAIN 1..402
FT /note="LIM homeobox transcription factor 1-beta"
FT /id="PRO_0000075828"
FT DOMAIN 56..106
FT /note="LIM zinc-binding 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DOMAIN 115..168
FT /note="LIM zinc-binding 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DNA_BIND 219..278
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 176..229
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 326..346
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 293
FT /note="L -> LGQGEPGPGQGL (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046472"
FT VAR_SEQ 345..351
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:9590287"
FT /id="VSP_003113"
FT VARIANT 59
FT /note="C -> R (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015201"
FT VARIANT 59
FT /note="C -> S (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015202"
FT VARIANT 75
FT /note="S -> F (in dbSNP:rs2235058)"
FT /id="VAR_047755"
FT VARIANT 77
FT /note="H -> N (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015190"
FT VARIANT 77
FT /note="H -> Q (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015203"
FT VARIANT 77
FT /note="H -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015204"
FT VARIANT 80
FT /note="C -> R (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015205"
FT VARIANT 81
FT /note="L -> W (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015191"
FT VARIANT 83
FT /note="C -> F (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015192"
FT VARIANT 83
FT /note="C -> G (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015206"
FT VARIANT 83
FT /note="C -> W (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015193"
FT VARIANT 83
FT /note="C -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015207"
FT VARIANT 86
FT /note="C -> R (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015208"
FT VARIANT 103
FT /note="C -> W (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015194"
FT VARIANT 106
FT /note="D -> G (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015209"
FT VARIANT 118
FT /note="C -> F (in NPS; dbSNP:rs121909488)"
FT /evidence="ECO:0000269|PubMed:9618165"
FT /id="VAR_004198"
FT VARIANT 118
FT /note="C -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942,
FT ECO:0000269|PubMed:11668639"
FT /id="VAR_015195"
FT VARIANT 137
FT /note="H -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015196"
FT VARIANT 140
FT /note="C -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015197"
FT VARIANT 143
FT /note="C -> S (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015210"
FT VARIANT 146
FT /note="C -> F (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015211"
FT VARIANT 146
FT /note="C -> Y (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015212"
FT VARIANT 165
FT /note="C -> W (in NPS)"
FT /evidence="ECO:0000269|PubMed:9837817"
FT /id="VAR_004199"
FT VARIANT 223
FT /note="R -> Q (in NPS; dbSNP:rs121909491)"
FT /evidence="ECO:0000269|PubMed:11668639,
FT ECO:0000269|PubMed:9837817"
FT /id="VAR_004200"
FT VARIANT 236
FT /note="A -> P (in NPS; dbSNP:rs1588307140)"
FT /evidence="ECO:0000269|PubMed:11668639,
FT ECO:0000269|PubMed:9837817"
FT /id="VAR_004201"
FT VARIANT 241
FT /note="S -> P (in NPS)"
FT /evidence="ECO:0000269|PubMed:9837817"
FT /id="VAR_004202"
FT VARIANT 246
FT /note="R -> P (in FSGS10; dbSNP:rs1191455921)"
FT /evidence="ECO:0000269|PubMed:23687361"
FT /id="VAR_085231"
FT VARIANT 246
FT /note="R -> Q (in FSGS10; decreased transcriptional
FT activity; dbSNP:rs1191455921)"
FT /evidence="ECO:0000269|PubMed:23687361,
FT ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:26560070,
FT ECO:0000269|PubMed:28059119, ECO:0000269|PubMed:32356190,
FT ECO:0000269|PubMed:32791958"
FT /id="VAR_085232"
FT VARIANT 249
FT /note="R -> P (in NPS; dbSNP:rs1056252582)"
FT /evidence="ECO:0000269|PubMed:9837817"
FT /id="VAR_004203"
FT VARIANT 252
FT /note="L -> P (in NPS)"
FT /evidence="ECO:0000269|PubMed:10571942"
FT /id="VAR_015213"
FT VARIANT 253
FT /note="A -> V (in NPS)"
FT /evidence="ECO:0000269|PubMed:9837817"
FT /id="VAR_004204"
FT VARIANT 266
FT /note="W -> C (in NPS)"
FT /evidence="ECO:0000269|PubMed:11668639"
FT /id="VAR_015198"
FT VARIANT 269
FT /note="N -> K (in NPS; dbSNP:rs121909486)"
FT /evidence="ECO:0000269|PubMed:11668639,
FT ECO:0000269|PubMed:9590287, ECO:0000269|PubMed:9837817"
FT /id="VAR_004205"
FT MUTAGEN 265
FT /note="V->L: Loss of transcriptional activity."
FT /evidence="ECO:0000269|PubMed:24042019"
SQ SEQUENCE 402 AA; 44917 MW; E59FC36C39C7C9A3 CRC64;
MDIATGPESL ERCFPRGQTD CAKMLDGIKM EEHALRPGPA TLGVLLGSDC PHPAVCEGCQ
RPISDRFLMR VNESSWHEEC LQCAACQQAL TTSCYFRDRK LYCKQDYQQL FAAKCSGCME
KIAPTEFVMR ALECVYHLGC FCCCVCERQL RKGDEFVLKE GQLLCKGDYE KEKDLLSSVS
PDESDSVKSE DEDGDMKPAK GQGSQSKGSG DDGKDPRRPK RPRTILTTQQ RRAFKASFEV
SSKPCRKVRE TLAAETGLSV RVVQVWFQNQ RAKMKKLARR HQQQQEQQNS QRLGQEVLSS
RMEGMMASYT PLAPPQQQIV AMEQSPYGSS DPFQQGLTPP QMPGDHMNPY GNDSIFHDID
SDTSLTSLSD CFLGSSDVGS LQARVGNPID RLYSMQSSYF AS
