PTHD1_HUMAN
ID PTHD1_HUMAN Reviewed; 888 AA.
AC Q96NR3; B4DQH0; Q0IJ60; Q6P6B8;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Patched domain-containing protein 1 {ECO:0000305};
GN Name=PTCHD1 {ECO:0000312|HGNC:HGNC:26392};
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 MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cerebellum, and Teratocarcinoma;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Ovary;
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 INVOLVEMENT IN AUTSX4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP VARIANTS PHE-73; VAL-173; ILE-195; LEU-251; 336-ILE-ILE-337; ARG-359;
RP ASP-470; GLY-479 AND LYS-497.
RX PubMed=20844286; DOI=10.1126/scitranslmed.3001267;
RA Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A.,
RA Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I.,
RA Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J.,
RA Pagnamenta A.T., Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S.,
RA Stewart A.F., Roberts R., McPherson R., Guter S.J., Cook E.H. Jr.,
RA Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L.,
RA Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M., Liu X.,
RA Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W.,
RA Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F.,
RA Schwartz C.E., Schachar R.J., Monaco A.P., Rouleau G.A., Hui C.C.,
RA Lucy Raymond F., Scherer S.W., Vincent J.B.;
RT "Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and
RT intellectual disability.";
RL Sci. Transl. Med. 2:49RA68-49RA68(2010).
RN [5]
RP INVOLVEMENT IN AUTSX4.
RX PubMed=25131214; DOI=10.1111/cge.12482;
RA Chaudhry A., Noor A., Degagne B., Baker K., Bok L.A., Brady A.F.,
RA Chitayat D., Chung B.H., Cytrynbaum C., Dyment D., Filges I., Helm B.,
RA Hutchison H.T., Jeng L.J., Laumonnier F., Marshall C.R., Menzel M.,
RA Parkash S., Parker M.J., Raymond L.F., Rideout A.L., Roberts W., Rupps R.,
RA Schanze I., Schrander-Stumpel C.T., Speevak M.D., Stavropoulos D.J.,
RA Stevens S.J., Thomas E.R., Toutain A., Vergano S., Weksberg R.,
RA Scherer S.W., Vincent J.B., Carter M.T.;
RT "Phenotypic spectrum associated with PTCHD1 deletions and truncating
RT mutations includes intellectual disability and autism spectrum disorder.";
RL Clin. Genet. 88:224-233(2015).
RN [6]
RP INVOLVEMENT IN AUTSX4, AND VARIANTS ASN-51; HIS-82; LYS-497 AND ALA-882.
RX PubMed=25782667; DOI=10.1038/ejhg.2015.37;
RA Torrico B., Fernandez-Castillo N., Hervas A., Mila M., Salgado M.,
RA Rueda I., Buitelaar J.K., Rommelse N., Oerlemans A.M., Bralten J.,
RA Freitag C.M., Reif A., Battaglia A., Mazzone L., Maestrini E., Cormand B.,
RA Toma C.;
RT "Contribution of common and rare variants of the PTCHD1 gene to autism
RT spectrum disorders and intellectual disability.";
RL Eur. J. Hum. Genet. 23:1694-1701(2015).
CC -!- FUNCTION: Required for the development and function of the thalamic
CC reticular nucleus (TRN), a part of the thalamus that is critical for
CC thalamocortical transmission, generation of sleep rhythms, sensorimotor
CC processing and attention. {ECO:0000250|UniProtKB:Q14B62}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20844286};
CC Multi-pass membrane protein {ECO:0000269|PubMed:20844286}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96NR3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NR3-2; Sequence=VSP_023511;
CC Name=3;
CC IsoId=Q96NR3-3; Sequence=VSP_023511, VSP_023512, VSP_023513;
CC -!- TISSUE SPECIFICITY: Widely expressed, including in various regions of
CC the brain with highest expression in the gray and white cerebellum,
CC followed by the cerebellar vermis and the pituitary gland.
CC {ECO:0000269|PubMed:20844286}.
CC -!- DISEASE: Autism, X-linked 4 (AUTSX4) [MIM:300830]: A complex
CC multifactorial, pervasive developmental disorder characterized by
CC impairments in reciprocal social interaction and communication,
CC restricted and stereotyped patterns of interests and activities, and
CC the presence of developmental abnormalities by 3 years of age. Most
CC individuals with autism also manifest moderate intellectual disability.
CC {ECO:0000269|PubMed:20844286, ECO:0000269|PubMed:25131214,
CC ECO:0000269|PubMed:25782667}. Note=Disease susceptibility is associated
CC with variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the patched family. {ECO:0000305}.
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DR EMBL; AK054858; BAB70816.1; -; mRNA.
DR EMBL; AK298796; BAG60932.1; -; mRNA.
DR EMBL; AC073910; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062344; AAH62344.1; -; mRNA.
DR EMBL; BC121061; AAI21062.1; -; mRNA.
DR CCDS; CCDS35215.2; -. [Q96NR3-1]
DR RefSeq; NP_775766.2; NM_173495.2. [Q96NR3-1]
DR RefSeq; XP_011543751.1; XM_011545449.2. [Q96NR3-1]
DR AlphaFoldDB; Q96NR3; -.
DR SMR; Q96NR3; -.
DR BioGRID; 126564; 2.
DR STRING; 9606.ENSP00000368666; -.
DR GlyGen; Q96NR3; 10 sites.
DR iPTMnet; Q96NR3; -.
DR PhosphoSitePlus; Q96NR3; -.
DR BioMuta; PTCHD1; -.
DR DMDM; 146331074; -.
DR jPOST; Q96NR3; -.
DR MassIVE; Q96NR3; -.
DR PaxDb; Q96NR3; -.
DR PeptideAtlas; Q96NR3; -.
DR PRIDE; Q96NR3; -.
DR Antibodypedia; 55285; 93 antibodies from 21 providers.
DR DNASU; 139411; -.
DR Ensembl; ENST00000379361.5; ENSP00000368666.4; ENSG00000165186.12. [Q96NR3-1]
DR GeneID; 139411; -.
DR KEGG; hsa:139411; -.
DR MANE-Select; ENST00000379361.5; ENSP00000368666.4; NM_173495.3; NP_775766.2.
DR UCSC; uc064yif.1; human. [Q96NR3-1]
DR CTD; 139411; -.
DR DisGeNET; 139411; -.
DR GeneCards; PTCHD1; -.
DR HGNC; HGNC:26392; PTCHD1.
DR HPA; ENSG00000165186; Tissue enhanced (brain).
DR MalaCards; PTCHD1; -.
DR MIM; 300828; gene.
DR MIM; 300830; phenotype.
DR neXtProt; NX_Q96NR3; -.
DR OpenTargets; ENSG00000165186; -.
DR Orphanet; 106; NON RARE IN EUROPE: Autism.
DR Orphanet; 777; X-linked non-syndromic intellectual disability.
DR PharmGKB; PA134942420; -.
DR VEuPathDB; HostDB:ENSG00000165186; -.
DR eggNOG; KOG1934; Eukaryota.
DR GeneTree; ENSGT00940000157080; -.
DR HOGENOM; CLU_1051839_0_0_1; -.
DR InParanoid; Q96NR3; -.
DR OMA; MYTRYQE; -.
DR OrthoDB; 172471at2759; -.
DR PhylomeDB; Q96NR3; -.
DR TreeFam; TF331806; -.
DR PathwayCommons; Q96NR3; -.
DR SIGNOR; Q96NR3; -.
DR BioGRID-ORCS; 139411; 9 hits in 689 CRISPR screens.
DR ChiTaRS; PTCHD1; human.
DR GenomeRNAi; 139411; -.
DR Pharos; Q96NR3; Tbio.
DR PRO; PR:Q96NR3; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q96NR3; protein.
DR Bgee; ENSG00000165186; Expressed in cauda epididymis and 118 other tissues.
DR ExpressionAtlas; Q96NR3; baseline and differential.
DR Genevisible; Q96NR3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:0050890; P:cognition; IMP:UniProtKB.
DR GO; GO:0098976; P:excitatory chemical synaptic transmission; IEA:Ensembl.
DR GO; GO:0098977; P:inhibitory chemical synaptic transmission; IEA:Ensembl.
DR GO; GO:0007616; P:long-term memory; IEA:Ensembl.
DR GO; GO:0007614; P:short-term memory; IEA:Ensembl.
DR GO; GO:0007224; P:smoothened signaling pathway; IDA:UniProtKB.
DR GO; GO:0035176; P:social behavior; ISS:UniProtKB.
DR GO; GO:0021794; P:thalamus development; ISS:UniProtKB.
DR InterPro; IPR003392; Ptc/Disp.
DR InterPro; IPR000731; SSD.
DR Pfam; PF02460; Patched; 1.
DR PROSITE; PS50156; SSD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Autism; Autism spectrum disorder; Cell membrane;
KW Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..888
FT /note="Patched domain-containing protein 1"
FT /id="PRO_0000280040"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 273..293
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 298..318
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 328..348
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 373..393
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 407..427
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 502..522
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 707..727
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 738..758
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 795..815
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 826..846
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 268..427
FT /note="SSD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00199"
FT CARBOHYD 77
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 133
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 167
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 319
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 326
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 568
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 599
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 608
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 762
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 818
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..105
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023511"
FT VAR_SEQ 339..361
FT /note="HGLYGTFEMLSSWRKTREDQHVK -> NYYSSFFCFRLLVVLTRFLKGQE
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023512"
FT VAR_SEQ 362..888
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023513"
FT VARIANT 51
FT /note="S -> N (found in a patient with intellectual
FT disability; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:25782667"
FT /id="VAR_075876"
FT VARIANT 73
FT /note="L -> F (in dbSNP:rs373105249)"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064872"
FT VARIANT 82
FT /note="R -> H (in dbSNP:rs371935424)"
FT /evidence="ECO:0000269|PubMed:25782667"
FT /id="VAR_075877"
FT VARIANT 173
FT /note="I -> V (in dbSNP:rs147324438)"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064873"
FT VARIANT 195
FT /note="V -> I (in dbSNP:rs769407241)"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064874"
FT VARIANT 251
FT /note="P -> L"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064875"
FT VARIANT 336..337
FT /note="ML -> II"
FT /id="VAR_064876"
FT VARIANT 359
FT /note="H -> R (in dbSNP:rs1331109571)"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064877"
FT VARIANT 470
FT /note="A -> D"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064878"
FT VARIANT 479
FT /note="E -> G"
FT /evidence="ECO:0000269|PubMed:20844286"
FT /id="VAR_064879"
FT VARIANT 497
FT /note="N -> K (in dbSNP:rs35880456)"
FT /evidence="ECO:0000269|PubMed:20844286,
FT ECO:0000269|PubMed:25782667"
FT /id="VAR_064880"
FT VARIANT 882
FT /note="V -> A (in dbSNP:rs1393748204)"
FT /evidence="ECO:0000269|PubMed:25782667"
FT /id="VAR_075878"
FT CONFLICT 5
FT /note="V -> A (in Ref. 1; BAG60932)"
FT /evidence="ECO:0000305"
FT CONFLICT 587
FT /note="W -> R (in Ref. 1; BAB70816)"
FT /evidence="ECO:0000305"
FT CONFLICT 774
FT /note="T -> A (in Ref. 1; BAB70816)"
FT /evidence="ECO:0000305"
FT CONFLICT 883
FT /note="D -> V (in Ref. 1; BAG60932)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 888 AA; 101341 MW; 189E1C453CBF548F CRC64;
MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE SVEHLLAPQH
SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS FQKANMLDQH HTDLILKLHA
AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV DDIVHVLEEL KNARATNRTN FAITYPITHL
KDGRAVYNGH QLGGVTVHSK DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF
QKSNSKVKMY PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG
LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS WRKTREDQHV
KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR IFCCNSCIAI FFNYLYVLSF
YGSSLVFTGY IENNYQHSIF CRKVPKPEAL QEKPAWYRFL LTARFSEDTA EGEEANTYES
HLLVCFLKRY YCDWITNTYV KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE
YTTAQQKYFS NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV
STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV AKTMETNREE
LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL HNSCISALFL LFFSAFLVAD
SLINVWITLT VVSVEFGVIG FMTLWKVELD CISVLCLIYG INYTIDNCAP MLSTFVLGKD
FTRTKWVKNA LEVHGVAILQ SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA
ILPVILTFLP PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV
