DAAF4_HUMAN
ID DAAF4_HUMAN Reviewed; 420 AA.
AC Q8WXU2; Q6P5Y9; Q8N1S6;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Dynein axonemal assembly factor 4 {ECO:0000312|HGNC:HGNC:21493};
DE AltName: Full=Dyslexia susceptibility 1 candidate gene 1 protein;
GN Name=DNAAF4 {ECO:0000312|HGNC:HGNC:21493}; Synonyms=DYX1C1, EKN1;
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 [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, CHROMOSOMAL TRANSLOCATION, AND VARIANTS SER-2; ILE-91; GLY-191
RP AND CYS-420.
RX PubMed=12954984; DOI=10.1073/pnas.1833911100;
RA Taipale M., Kaminen N., Nopola-Hemmi J., Haltia T., Myllyluoma B.,
RA Lyytinen H., Muller K., Kaaranen M., Lindsberg P.J., Hannula-Jouppi K.,
RA Kere J.;
RT "A candidate gene for developmental dyslexia encodes a nuclear
RT tetratricopeptide repeat domain protein dynamically regulated in brain.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:11553-11558(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Subthalamic nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS GLY-191
RP AND VAL-332.
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 SUBCELLULAR LOCATION.
RX PubMed=16989952; DOI=10.1016/j.neuroscience.2006.08.022;
RA Wang Y., Paramasivam M., Thomas A., Bai J., Kaminen-Ahola N., Kere J.,
RA Voskuil J., Rosen G.D., Galaburda A.M., Loturco J.J.;
RT "DYX1C1 functions in neuronal migration in developing neocortex.";
RL Neuroscience 143:515-522(2006).
RN [6]
RP FUNCTION, AND INTERACTION WITH ESR1 AND STUB1.
RX PubMed=19423554; DOI=10.1093/hmg/ddp215;
RA Massinen S., Tammimies K., Tapia-Paez I., Matsson H., Hokkanen M.E.,
RA Soederberg O., Landegren U., Castren E., Gustafsson J.A., Treuter E.,
RA Kere J.;
RT "Functional interaction of DYX1C1 with estrogen receptors suggests
RT involvement of hormonal pathways in dyslexia.";
RL Hum. Mol. Genet. 18:2802-2812(2009).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH DNAAF2, AND INVOLVEMENT IN
RP CILD25.
RX PubMed=23872636; DOI=10.1038/ng.2707;
RA Tarkar A., Loges N.T., Slagle C.E., Francis R., Dougherty G.W.,
RA Tamayo J.V., Shook B., Cantino M., Schwartz D., Jahnke C., Olbrich H.,
RA Werner C., Raidt J., Pennekamp P., Abouhamed M., Hjeij R., Kohler G.,
RA Griese M., Li Y., Lemke K., Klena N., Liu X., Gabriel G., Tobita K.,
RA Jaspers M., Morgan L.C., Shapiro A.J., Letteboer S.J., Mans D.A.,
RA Carson J.L., Leigh M.W., Wolf W.E., Chen S., Lucas J.S., Onoufriadis A.,
RA Plagnol V., Schmidts M., Boldt K., Roepman R., Zariwala M.A., Lo C.W.,
RA Mitchison H.M., Knowles M.R., Burdine R.D., Loturco J.J., Omran H.;
RT "DYX1C1 is required for axonemal dynein assembly and ciliary motility.";
RL Nat. Genet. 45:995-1003(2013).
RN [8]
RP INVOLVEMENT IN CILD25.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
RN [9]
RP INTERACTION WITH DNAAF6.
RX PubMed=28041644; DOI=10.1016/j.ajhg.2016.11.019;
RA Paff T., Loges N.T., Aprea I., Wu K., Bakey Z., Haarman E.G., Daniels J.M.,
RA Sistermans E.A., Bogunovic N., Dougherty G.W., Hoeben I.M.,
RA Grosse-Onnebrink J., Matter A., Olbrich H., Werner C., Pals G.,
RA Schmidts M., Omran H., Micha D.;
RT "Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer
RT and Inner Dynein Arm Defects.";
RL Am. J. Hum. Genet. 100:160-168(2017).
RN [10]
RP INTERACTION WITH ZMYND10.
RX PubMed=29601588; DOI=10.1371/journal.pgen.1007316;
RA Cho K.J., Noh S.H., Han S.M., Choi W.I., Kim H.Y., Yu S., Lee J.S.,
RA Rim J.H., Lee M.G., Hildebrandt F., Gee H.Y.;
RT "ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-
RT assembly of dynein arms.";
RL PLoS Genet. 14:E1007316-E1007316(2018).
CC -!- FUNCTION: Axonemal dynein assembly factor required for ciliary
CC motility. Involved in neuronal migration during development of the
CC cerebral neocortex. May regulate the stability and proteasomal
CC degradation of the estrogen receptors that play an important role in
CC neuronal differentiation, survival and plasticity.
CC {ECO:0000269|PubMed:19423554, ECO:0000269|PubMed:23872636}.
CC -!- SUBUNIT: Interacts with ZMYND10 (PubMed:29601588). Interacts with ESR1
CC and ESR2 (PubMed:19423554). Interacts with STUB1 (PubMed:19423554).
CC Interacts with DNAAF2 (PubMed:23872636). Interacts with CCT3, CCT4,
CC CCT5 and CCT8 (By similarity). Interacts with DNAAF6/PIH1D3
CC (PubMed:28041644). {ECO:0000250|UniProtKB:Q8R368,
CC ECO:0000269|PubMed:19423554, ECO:0000269|PubMed:23872636,
CC ECO:0000269|PubMed:28041644, ECO:0000269|PubMed:29601588}.
CC -!- INTERACTION:
CC Q8WXU2; O95166: GABARAP; NbExp=4; IntAct=EBI-2946907, EBI-712001;
CC Q8WXU2; Q9H0R8: GABARAPL1; NbExp=2; IntAct=EBI-2946907, EBI-746969;
CC Q8WXU2; P60520: GABARAPL2; NbExp=2; IntAct=EBI-2946907, EBI-720116;
CC Q8WXU2; Q9BXW4: MAP1LC3C; NbExp=2; IntAct=EBI-2946907, EBI-2603996;
CC Q8WXU2; Q96EA4: SPDL1; NbExp=3; IntAct=EBI-2946907, EBI-715381;
CC Q8WXU2-2; Q9H503-2: BANF2; NbExp=3; IntAct=EBI-9381887, EBI-11977289;
CC Q8WXU2-2; P23508: MCC; NbExp=3; IntAct=EBI-9381887, EBI-307531;
CC Q8WXU2-2; Q96EA4: SPDL1; NbExp=3; IntAct=EBI-9381887, EBI-715381;
CC Q8WXU2-2; Q9UNE7: STUB1; NbExp=3; IntAct=EBI-9381887, EBI-357085;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12954984,
CC ECO:0000269|PubMed:16989952}. Cytoplasm {ECO:0000269|PubMed:12954984,
CC ECO:0000269|PubMed:16989952, ECO:0000269|PubMed:23872636}. Dynein
CC axonemal particle {ECO:0000305|PubMed:23872636}. Cell projection,
CC neuron projection {ECO:0000250|UniProtKB:Q5VJS5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WXU2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WXU2-2; Sequence=VSP_011822, VSP_011823;
CC Name=3;
CC IsoId=Q8WXU2-3; Sequence=VSP_041379;
CC -!- TISSUE SPECIFICITY: Expressed in several tissues, including brain,
CC lung, kidney and testis. In brain localizes to a fraction of cortical
CC neurons and white matter glial cells. {ECO:0000269|PubMed:12954984}.
CC -!- DISEASE: Dyslexia 1 (DYX1) [MIM:127700]: A relatively common, complex
CC cognitive disorder characterized by an impairment of reading
CC performance despite adequate motivational, educational and intellectual
CC opportunities. It is a multifactorial trait, with evidence for familial
CC clustering and heritability. Note=Disease susceptibility is associated
CC with variants affecting the gene represented in this entry. A
CC chromosomal aberration involving DNAAF4 has been found in a family
CC affected by dyslexia. Translocation t(2;15)(q11;q21).
CC -!- DISEASE: Ciliary dyskinesia, primary, 25 (CILD25) [MIM:615482]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia. Patients may
CC exhibit randomization of left-right body asymmetry and situs inversus,
CC due to dysfunction of monocilia at the embryonic node. Primary ciliary
CC dyskinesia associated with situs inversus is referred to as Kartagener
CC syndrome. {ECO:0000269|PubMed:23872636, ECO:0000269|PubMed:25186273}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AF337549; AAL73230.1; -; mRNA.
DR EMBL; AK095201; BAC04498.1; -; mRNA.
DR EMBL; AC013355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC022083; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062564; AAH62564.1; -; mRNA.
DR CCDS; CCDS10154.1; -. [Q8WXU2-1]
DR CCDS; CCDS32243.1; -. [Q8WXU2-2]
DR CCDS; CCDS32244.1; -. [Q8WXU2-3]
DR RefSeq; NP_001028731.1; NM_001033559.2. [Q8WXU2-3]
DR RefSeq; NP_001028732.1; NM_001033560.1. [Q8WXU2-2]
DR RefSeq; NP_570722.2; NM_130810.3. [Q8WXU2-1]
DR AlphaFoldDB; Q8WXU2; -.
DR SMR; Q8WXU2; -.
DR BioGRID; 127797; 22.
DR IntAct; Q8WXU2; 16.
DR MINT; Q8WXU2; -.
DR STRING; 9606.ENSP00000323275; -.
DR iPTMnet; Q8WXU2; -.
DR PhosphoSitePlus; Q8WXU2; -.
DR BioMuta; DNAAF4; -.
DR DMDM; 209572610; -.
DR jPOST; Q8WXU2; -.
DR MassIVE; Q8WXU2; -.
DR MaxQB; Q8WXU2; -.
DR PaxDb; Q8WXU2; -.
DR PeptideAtlas; Q8WXU2; -.
DR PRIDE; Q8WXU2; -.
DR ProteomicsDB; 75102; -. [Q8WXU2-1]
DR ProteomicsDB; 75103; -. [Q8WXU2-2]
DR ProteomicsDB; 75104; -. [Q8WXU2-3]
DR Antibodypedia; 51982; 279 antibodies from 31 providers.
DR DNASU; 161582; -.
DR Ensembl; ENST00000321149.7; ENSP00000323275.3; ENSG00000256061.7. [Q8WXU2-1]
DR Ensembl; ENST00000348518.4; ENSP00000299561.5; ENSG00000256061.7. [Q8WXU2-1]
DR Ensembl; ENST00000448430.6; ENSP00000403412.2; ENSG00000256061.7. [Q8WXU2-2]
DR Ensembl; ENST00000457155.6; ENSP00000402640.2; ENSG00000256061.7. [Q8WXU2-3]
DR GeneID; 161582; -.
DR KEGG; hsa:161582; -.
DR MANE-Select; ENST00000321149.7; ENSP00000323275.3; NM_130810.4; NP_570722.2.
DR UCSC; uc002adc.3; human. [Q8WXU2-1]
DR CTD; 161582; -.
DR DisGeNET; 161582; -.
DR GeneCards; DNAAF4; -.
DR GeneReviews; DNAAF4; -.
DR HGNC; HGNC:21493; DNAAF4.
DR HPA; ENSG00000256061; Tissue enhanced (retina).
DR MalaCards; DNAAF4; -.
DR MIM; 127700; phenotype.
DR MIM; 608706; gene.
DR MIM; 615482; phenotype.
DR neXtProt; NX_Q8WXU2; -.
DR OpenTargets; ENSG00000256061; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA134870600; -.
DR VEuPathDB; HostDB:ENSG00000256061; -.
DR eggNOG; KOG1124; Eukaryota.
DR GeneTree; ENSGT00390000004930; -.
DR HOGENOM; CLU_029084_0_0_1; -.
DR InParanoid; Q8WXU2; -.
DR OMA; PPYLFEV; -.
DR OrthoDB; 1485667at2759; -.
DR PhylomeDB; Q8WXU2; -.
DR TreeFam; TF328983; -.
DR PathwayCommons; Q8WXU2; -.
DR SignaLink; Q8WXU2; -.
DR BioGRID-ORCS; 161582; 4 hits in 1077 CRISPR screens.
DR ChiTaRS; DYX1C1; human.
DR GeneWiki; DYX1C1; -.
DR GenomeRNAi; 161582; -.
DR Pharos; Q8WXU2; Tbio.
DR PRO; PR:Q8WXU2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8WXU2; protein.
DR Bgee; ENSG00000256061; Expressed in bronchial epithelial cell and 125 other tissues.
DR ExpressionAtlas; Q8WXU2; baseline and differential.
DR Genevisible; Q8WXU2; HS.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0120293; C:dynein axonemal particle; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0043005; C:neuron projection; IEA:UniProtKB-SubCell.
DR GO; GO:0097730; C:non-motile cilium; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030331; F:nuclear estrogen receptor binding; IDA:UniProtKB.
DR GO; GO:0003341; P:cilium movement; IMP:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IBA:GO_Central.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR GO; GO:0036159; P:inner dynein arm assembly; IMP:UniProtKB.
DR GO; GO:0007611; P:learning or memory; IEA:Ensembl.
DR GO; GO:0001764; P:neuron migration; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; IMP:UniProtKB.
DR GO; GO:0033146; P:regulation of intracellular estrogen receptor signaling pathway; IDA:UniProtKB.
DR GO; GO:0061136; P:regulation of proteasomal protein catabolic process; IDA:UniProtKB.
DR CDD; cd06469; p23_DYX1C1_like; 1.
DR Gene3D; 1.25.40.10; -; 1.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR007052; CS_dom.
DR InterPro; IPR037894; CS_DYX1C1.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF04969; CS; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS51203; CS; 1.
DR PROSITE; PS50005; TPR; 3.
DR PROSITE; PS50293; TPR_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Chromosomal rearrangement;
KW Ciliopathy; Cytoplasm; Kartagener syndrome; Neurogenesis; Nucleus;
KW Primary ciliary dyskinesia; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..420
FT /note="Dynein axonemal assembly factor 4"
FT /id="PRO_0000106284"
FT DOMAIN 3..87
FT /note="CS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00547"
FT REPEAT 290..323
FT /note="TPR 1"
FT REPEAT 324..357
FT /note="TPR 2"
FT REPEAT 366..399
FT /note="TPR 3"
FT REGION 7..103
FT /note="Mediates interaction with ESR1 and STUB1"
FT /evidence="ECO:0000269|PubMed:19423554"
FT VAR_SEQ 350..381
FT /note="ALELLMPPVTDNANARMKAHVRRGTAFCQLEL -> EFCSLEGIECQASEPK
FT LSHHIPSDLHVYIQMA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_011822"
FT VAR_SEQ 351..420
FT /note="LELLMPPVTDNANARMKAHVRRGTAFCQLELYVEGLQDYEAALKIDPSNKIV
FT QIDAEKIRNVIQGTELKS -> YRIMKRHLRLIHPTKLYKLMLRRFGM (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041379"
FT VAR_SEQ 382..420
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_011823"
FT VARIANT 2
FT /note="P -> S (in dbSNP:rs143493699)"
FT /evidence="ECO:0000269|PubMed:12954984"
FT /id="VAR_017383"
FT VARIANT 38
FT /note="N -> K (in dbSNP:rs16976354)"
FT /id="VAR_026214"
FT VARIANT 91
FT /note="V -> I (in dbSNP:rs17819126)"
FT /evidence="ECO:0000269|PubMed:12954984"
FT /id="VAR_017384"
FT VARIANT 191
FT /note="E -> G (in dbSNP:rs600753)"
FT /evidence="ECO:0000269|PubMed:12954984,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017385"
FT VARIANT 332
FT /note="A -> V (in dbSNP:rs17855756)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026215"
FT VARIANT 420
FT /note="S -> C (in dbSNP:rs77641439)"
FT /evidence="ECO:0000269|PubMed:12954984"
FT /id="VAR_017386"
SQ SEQUENCE 420 AA; 48527 MW; 6B8729B3F4ED5108 CRC64;
MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE ERKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA LELLMPPVTD
NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK IVQIDAEKIR NVIQGTELKS
