IF172_HUMAN
ID IF172_HUMAN Reviewed; 1749 AA.
AC Q9UG01; A5PKZ0; B2RNU5; Q86X44; Q96HW4; Q9UFJ9; Q9ULP1;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Intraflagellar transport protein 172 homolog;
GN Name=IFT172; Synonyms=KIAA1179;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Lung;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-1749 (ISOFORM 1), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1203-1737 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 660-1749 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [6]
RP SUMOYLATION AT LYS-4, AND ACETYLATION AT MET-1.
RC TISSUE=Cervix carcinoma;
RX PubMed=20388717; DOI=10.1074/jbc.m110.106955;
RA Blomster H.A., Imanishi S.Y., Siimes J., Kastu J., Morrice N.A.,
RA Eriksson J.E., Sistonen L.;
RT "In vivo identification of sumoylation sites by a signature tag and
RT cysteine-targeted affinity purification.";
RL J. Biol. Chem. 285:19324-19329(2010).
RN [7]
RP SUBCELLULAR LOCATION, AND VARIANTS SRTD10 TRP-296; ASN-411; 464-ASP-ILE-465
RP DEL; PRO-1536; CYS-1544 AND ARG-1727.
RX PubMed=24140113; DOI=10.1016/j.ajhg.2013.09.012;
RG UK10K Consortium;
RA Halbritter J., Bizet A.A., Schmidts M., Porath J.D., Braun D.A., Gee H.Y.,
RA McInerney-Leo A.M., Krug P., Filhol E., Davis E.E., Airik R.,
RA Czarnecki P.G., Lehman A.M., Trnka P., Nitschke P., Bole-Feysot C.,
RA Schueler M., Knebelmann B., Burtey S., Szabo A.J., Tory K., Leo P.J.,
RA Gardiner B., McKenzie F.A., Zankl A., Brown M.A., Hartley J.L., Maher E.R.,
RA Li C., Leroux M.R., Scambler P.J., Zhan S.H., Jones S.J., Kayserili H.,
RA Tuysuz B., Moorani K.N., Constantinescu A., Krantz I.D., Kaplan B.S.,
RA Shah J.V., Hurd T.W., Doherty D., Katsanis N., Duncan E.L., Otto E.A.,
RA Beales P.L., Mitchison H.M., Saunier S., Hildebrandt F.;
RT "Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino
RT syndromes in humans.";
RL Am. J. Hum. Genet. 93:915-925(2013).
RN [8]
RP VARIANTS RP71 PRO-257 AND GLU-1605, VARIANT BBS20 GLN-1567,
RP CHARACTERIZATION OF VARIANTS RP71 PRO-257 AND GLU-1605, CHARACTERIZATION OF
RP VARIANT BBS20 GLN-1567, INVOLVEMENT IN RP71, AND INVOLVEMENT IN BBS20.
RX PubMed=25168386; DOI=10.1093/hmg/ddu441;
RA Bujakowska K.M., Zhang Q., Siemiatkowska A.M., Liu Q., Place E., Falk M.J.,
RA Consugar M., Lancelot M.E., Antonio A., Lonjou C., Carpentier W.,
RA Mohand-Said S., den Hollander A.I., Cremers F.P., Leroy B.P., Gai X.,
RA Sahel J.A., van den Born L.I., Collin R.W., Zeitz C., Audo I., Pierce E.A.;
RT "Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl
RT syndrome.";
RL Hum. Mol. Genet. 24:230-242(2015).
RN [9]
RP VARIANTS BBS20 ARG-493 AND TYR-719.
RX PubMed=32451492; DOI=10.1038/s10038-020-0778-y;
RA Hirano M., Satake W., Moriyama N., Saida K., Okamoto N., Cha P.C.,
RA Suzuki Y., Kusunoki S., Toda T.;
RT "Bardet-Biedl syndrome and related disorders in Japan.";
RL J. Hum. Genet. 65:847-853(2020).
CC -!- FUNCTION: Required for the maintenance and formation of cilia. Plays an
CC indirect role in hedgehog (Hh) signaling, cilia being required for all
CC activity of the hedgehog pathway (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with IFT88 (By similarity). Interacts with IFT57 (By
CC similarity). Interacts with RABL2/RABL2A; binds preferentially to GDP-
CC bound RABL2 (By similarity). {ECO:0000250|UniProtKB:Q6VH22}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:24140113}. Note=Localized to the axoneme and around
CC the base of the cilium.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9UG01-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UG01-2; Sequence=VSP_032848, VSP_032849;
CC Name=3;
CC IsoId=Q9UG01-3; Sequence=VSP_054428, VSP_054429;
CC -!- DISEASE: Short-rib thoracic dysplasia 10 with or without polydactyly
CC (SRTD10) [MIM:615630]: A form of short-rib thoracic dysplasia, a group
CC of autosomal recessive ciliopathies that are characterized by a
CC constricted thoracic cage, short ribs, shortened tubular bones, and a
CC 'trident' appearance of the acetabular roof. Polydactyly is variably
CC present. Non-skeletal involvement can include cleft lip/palate as well
CC as anomalies of major organs such as the brain, eye, heart, kidneys,
CC liver, pancreas, intestines, and genitalia. Some forms of the disease
CC are lethal in the neonatal period due to respiratory insufficiency
CC secondary to a severely restricted thoracic cage, whereas others are
CC compatible with life. Disease spectrum encompasses Ellis-van Creveld
CC syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-
CC Saldino syndrome, and short rib-polydactyly syndrome.
CC {ECO:0000269|PubMed:24140113}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Retinitis pigmentosa 71 (RP71) [MIM:616394]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:25168386}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Bardet-Biedl syndrome 20 (BBS20) [MIM:619471]: A form of
CC Bardet-Biedl syndrome, a syndrome characterized by usually severe
CC pigmentary retinopathy, early-onset obesity, polydactyly,
CC hypogenitalism, renal malformation and intellectual disability.
CC Secondary features include diabetes mellitus, hypertension and
CC congenital heart disease. Bardet-Biedl syndrome inheritance is
CC autosomal recessive, but three mutated alleles (two at one locus, and a
CC third at a second locus) may be required for clinical manifestation of
CC some forms of the disease. {ECO:0000269|PubMed:25168386,
CC ECO:0000269|PubMed:32451492}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the IFT172 family. {ECO:0000305}.
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DR EMBL; AC074117; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471053; EAX00573.1; -; Genomic_DNA.
DR EMBL; BC008024; AAH08024.1; -; mRNA.
DR EMBL; BC047294; AAH47294.1; -; mRNA.
DR EMBL; BC137126; AAI37127.1; -; mRNA.
DR EMBL; BC142675; AAI42676.1; -; mRNA.
DR EMBL; BC142729; AAI42730.1; -; mRNA.
DR EMBL; AL110218; CAB53678.1; -; mRNA.
DR EMBL; AL117421; CAB55914.2; -; mRNA.
DR EMBL; AB033005; BAA86493.1; -; mRNA.
DR CCDS; CCDS1755.1; -. [Q9UG01-1]
DR PIR; T14758; T14758.
DR PIR; T17224; T17224.
DR RefSeq; NP_056477.1; NM_015662.2. [Q9UG01-1]
DR AlphaFoldDB; Q9UG01; -.
DR BioGRID; 117589; 46.
DR ComplexPortal; CPX-5022; IFT-B complex.
DR CORUM; Q9UG01; -.
DR IntAct; Q9UG01; 35.
DR MINT; Q9UG01; -.
DR STRING; 9606.ENSP00000260570; -.
DR iPTMnet; Q9UG01; -.
DR PhosphoSitePlus; Q9UG01; -.
DR BioMuta; IFT172; -.
DR DMDM; 182662418; -.
DR EPD; Q9UG01; -.
DR jPOST; Q9UG01; -.
DR MassIVE; Q9UG01; -.
DR MaxQB; Q9UG01; -.
DR PaxDb; Q9UG01; -.
DR PeptideAtlas; Q9UG01; -.
DR PRIDE; Q9UG01; -.
DR ProteomicsDB; 726; -.
DR ProteomicsDB; 84196; -. [Q9UG01-1]
DR ProteomicsDB; 84197; -. [Q9UG01-2]
DR Antibodypedia; 28528; 99 antibodies from 20 providers.
DR DNASU; 26160; -.
DR Ensembl; ENST00000260570.8; ENSP00000260570.3; ENSG00000138002.16. [Q9UG01-1]
DR Ensembl; ENST00000359466.10; ENSP00000352443.6; ENSG00000138002.16. [Q9UG01-3]
DR Ensembl; ENST00000674701.1; ENSP00000502275.1; ENSG00000138002.16. [Q9UG01-3]
DR GeneID; 26160; -.
DR KEGG; hsa:26160; -.
DR MANE-Select; ENST00000260570.8; ENSP00000260570.3; NM_015662.3; NP_056477.1.
DR UCSC; uc002rku.4; human. [Q9UG01-1]
DR CTD; 26160; -.
DR DisGeNET; 26160; -.
DR GeneCards; IFT172; -.
DR GeneReviews; IFT172; -.
DR HGNC; HGNC:30391; IFT172.
DR HPA; ENSG00000138002; Low tissue specificity.
DR MalaCards; IFT172; -.
DR MIM; 607386; gene.
DR MIM; 615630; phenotype.
DR MIM; 616394; phenotype.
DR MIM; 619471; phenotype.
DR neXtProt; NX_Q9UG01; -.
DR OpenTargets; ENSG00000138002; -.
DR Orphanet; 110; Bardet-Biedl syndrome.
DR Orphanet; 474; Jeune syndrome.
DR Orphanet; 791; Retinitis pigmentosa.
DR Orphanet; 140969; Saldino-Mainzer syndrome.
DR PharmGKB; PA142671666; -.
DR VEuPathDB; HostDB:ENSG00000138002; -.
DR eggNOG; KOG3616; Eukaryota.
DR GeneTree; ENSGT00940000153417; -.
DR HOGENOM; CLU_002716_0_0_1; -.
DR InParanoid; Q9UG01; -.
DR OMA; YQQLGMW; -.
DR OrthoDB; 30851at2759; -.
DR PhylomeDB; Q9UG01; -.
DR TreeFam; TF312901; -.
DR PathwayCommons; Q9UG01; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q9UG01; -.
DR SIGNOR; Q9UG01; -.
DR BioGRID-ORCS; 26160; 14 hits in 1077 CRISPR screens.
DR ChiTaRS; IFT172; human.
DR GenomeRNAi; 26160; -.
DR Pharos; Q9UG01; Tbio.
DR PRO; PR:Q9UG01; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9UG01; protein.
DR Bgee; ENSG00000138002; Expressed in right uterine tube and 156 other tissues.
DR ExpressionAtlas; Q9UG01; baseline and differential.
DR Genevisible; Q9UG01; HS.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:1903561; C:extracellular vesicle; HDA:UniProtKB.
DR GO; GO:0030992; C:intraciliary transport particle B; IPI:ComplexPortal.
DR GO; GO:0097598; C:sperm cytoplasmic droplet; IEA:Ensembl.
DR GO; GO:0097225; C:sperm midpiece; IEA:Ensembl.
DR GO; GO:0097228; C:sperm principal piece; IEA:Ensembl.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IDA:UniProtKB.
DR GO; GO:0031122; P:cytoplasmic microtubule organization; IEA:Ensembl.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IEA:Ensembl.
DR GO; GO:0048596; P:embryonic camera-type eye morphogenesis; IEA:Ensembl.
DR GO; GO:0008544; P:epidermis development; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0061525; P:hindgut development; IEA:Ensembl.
DR GO; GO:0035720; P:intraciliary anterograde transport; IC:ComplexPortal.
DR GO; GO:0042073; P:intraciliary transport; IBA:GO_Central.
DR GO; GO:0043616; P:keratinocyte proliferation; IEA:Ensembl.
DR GO; GO:0070986; P:left/right axis specification; IEA:Ensembl.
DR GO; GO:0060173; P:limb development; IEA:Ensembl.
DR GO; GO:0010839; P:negative regulation of keratinocyte proliferation; IEA:Ensembl.
DR GO; GO:0045879; P:negative regulation of smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0001843; P:neural tube closure; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0045880; P:positive regulation of smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0016485; P:protein processing; IEA:Ensembl.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; IEA:Ensembl.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF48371; SSF48371; 1.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Bardet-Biedl syndrome; Cell projection;
KW Ciliopathy; Cilium; Developmental protein; Disease variant;
KW Isopeptide bond; Methylation; Obesity; Reference proteome; Repeat;
KW Retinitis pigmentosa; TPR repeat; Ubl conjugation; WD repeat.
FT CHAIN 1..1749
FT /note="Intraflagellar transport protein 172 homolog"
FT /id="PRO_0000328941"
FT REPEAT 14..53
FT /note="WD 1"
FT REPEAT 64..103
FT /note="WD 2"
FT REPEAT 110..148
FT /note="WD 3"
FT REPEAT 150..191
FT /note="WD 4"
FT REPEAT 195..233
FT /note="WD 5"
FT REPEAT 238..278
FT /note="WD 6"
FT REPEAT 284..323
FT /note="WD 7"
FT REPEAT 483..520
FT /note="WD 8"
FT REPEAT 521..559
FT /note="WD 9"
FT REPEAT 593..624
FT /note="TPR 1"
FT REPEAT 692..725
FT /note="TPR 2"
FT REPEAT 809..842
FT /note="TPR 3"
FT REPEAT 854..887
FT /note="TPR 4"
FT REPEAT 912..945
FT /note="TPR 5"
FT REPEAT 947..970
FT /note="TPR 6"
FT REPEAT 971..1004
FT /note="TPR 7"
FT REPEAT 1042..1075
FT /note="TPR 8"
FT REPEAT 1142..1175
FT /note="TPR 9"
FT REPEAT 1276..1309
FT /note="TPR 10"
FT REPEAT 1345..1378
FT /note="TPR 11"
FT REPEAT 1411..1445
FT /note="TPR 12"
FT REPEAT 1447..1477
FT /note="TPR 13"
FT REPEAT 1574..1607
FT /note="TPR 14"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0000269|PubMed:20388717"
FT MOD_RES 672
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q6VH22"
FT CROSSLNK 4
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO1)"
FT VAR_SEQ 509..532
FT /note="LHLYDIESCSKTMILNFCSYMQWV -> VRRATKALGIGWPTEGVRQAATRD
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054428"
FT VAR_SEQ 533..1749
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054429"
FT VAR_SEQ 1514..1525
FT /note="CENLVKSSEANS -> AVLSPSSSVKTW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_032848"
FT VAR_SEQ 1526..1749
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_032849"
FT VARIANT 257
FT /note="L -> P (in RP71; represents a null allele;
FT dbSNP:rs786205857)"
FT /evidence="ECO:0000269|PubMed:25168386"
FT /id="VAR_073800"
FT VARIANT 296
FT /note="R -> W (in SRTD10; dbSNP:rs145541911)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070956"
FT VARIANT 411
FT /note="I -> N (in SRTD10; dbSNP:rs587777085)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070957"
FT VARIANT 464..465
FT /note="Missing (in SRTD10)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070958"
FT VARIANT 493
FT /note="L -> R (in BBS20; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32451492"
FT /id="VAR_086152"
FT VARIANT 719
FT /note="H -> Y (in BBS20; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32451492"
FT /id="VAR_086153"
FT VARIANT 953
FT /note="R -> H (in dbSNP:rs704793)"
FT /id="VAR_042581"
FT VARIANT 1536
FT /note="L -> P (in SRTD10; dbSNP:rs587777080)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070959"
FT VARIANT 1544
FT /note="R -> C (in SRTD10; dbSNP:rs587777079)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070960"
FT VARIANT 1567
FT /note="H -> Q (in BBS20; hypomorphic mutation;
FT dbSNP:rs786205855)"
FT /evidence="ECO:0000269|PubMed:25168386"
FT /id="VAR_073801"
FT VARIANT 1605
FT /note="D -> E (in RP71; hypomorphic mutation;
FT dbSNP:rs786205856)"
FT /evidence="ECO:0000269|PubMed:25168386"
FT /id="VAR_073802"
FT VARIANT 1727
FT /note="C -> R (in SRTD10; dbSNP:rs149614625)"
FT /evidence="ECO:0000269|PubMed:24140113"
FT /id="VAR_070961"
FT CONFLICT 1475
FT /note="P -> L (in Ref. 4; CAB55914)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1749 AA; 197576 MW; 78AA83802D79E3CE CRC64;
MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM
KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW
PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF
FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE
REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR
LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV
KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV
EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG
TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA
QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG
TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL
HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR
WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA
KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK
AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI
YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL
AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV
GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART
QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK
TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA
EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL
QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE
LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV
AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK
ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY
HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV KQLETVAARL
SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF LDLTDAIEEG TLDGLDHSDF
QDTDIPFEVP LPAKQHVPEA EREEVRDWVL TVSMDQRLEQ VLPRDERGAY EASLVAASTG
VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG
LPSTSFSFQ
