PCX2_HUMAN
ID PCX2_HUMAN Reviewed; 2137 AA.
AC A6NKB5; O43162; Q5T9Z8; Q5TDF1; Q8TEP4; Q96HP9; Q9HAL8;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 3.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Pecanex-like protein 2;
DE AltName: Full=Pecanex homolog protein 2 {ECO:0000312|HGNC:HGNC:8736};
GN Name=PCNX2 {ECO:0000312|HGNC:HGNC:8736}; Synonyms=KIAA0435, PCNXL2;
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] (ISOFORM 3), AND VARIANT ASN-1901.
RC TISSUE=Brain;
RX PubMed=9455477; DOI=10.1093/dnares/4.5.307;
RA Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VIII. 78
RT new cDNA clones from brain which code for large proteins in vitro.";
RL DNA Res. 4:307-313(1997).
RN [2]
RP SEQUENCE REVISION.
RA Ohara O.;
RL Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryo;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RC TISSUE=Colon;
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 [7]
RP FUNCTION.
RX PubMed=12140758; DOI=10.1038/sj.onc.1205703;
RA Kim N.-G., Rhee H., Li L.S., Kim H., Lee J.-S., Kim J.-H., Kim N.K.,
RA Kim H.;
RT "Identification of MARCKS, FLJ11383 and TAF1B as putative novel target
RT genes in colorectal carcinomas with microsatellite instability.";
RL Oncogene 21:5081-5087(2002).
RN [8]
RP FUNCTION.
RX PubMed=14507650; DOI=10.1016/s0002-9440(10)63500-6;
RA Li L.S., Kim N.-G., Kim S.H., Park C., Kim H., Kang H.J., Koh K.H.,
RA Kim S.N., Kim W.H., Kim N.K., Kim H.;
RT "Chromosomal imbalances in the colorectal carcinomas with microsatellite
RT instability.";
RL Am. J. Pathol. 163:1429-1436(2003).
CC -!- FUNCTION: May play a role in tumorigenesis of colorectal carcinomas
CC with high microsatellite instability (MSI-H).
CC {ECO:0000269|PubMed:12140758, ECO:0000269|PubMed:14507650}.
CC -!- INTERACTION:
CC A6NKB5-5; Q8WTS1: ABHD5; NbExp=3; IntAct=EBI-17616589, EBI-2813554;
CC A6NKB5-5; Q9P0S3: ORMDL1; NbExp=3; IntAct=EBI-17616589, EBI-1054848;
CC A6NKB5-5; Q9BRI3: SLC30A2; NbExp=3; IntAct=EBI-17616589, EBI-8644112;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=A6NKB5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NKB5-2; Sequence=VSP_033607, VSP_033608, VSP_033609;
CC Name=3;
CC IsoId=A6NKB5-3; Sequence=VSP_033606, VSP_033610, VSP_033611;
CC Name=5;
CC IsoId=A6NKB5-5; Sequence=VSP_035048, VSP_035049, VSP_035050;
CC Name=4;
CC IsoId=A6NKB5-4; Sequence=VSP_033605;
CC -!- MISCELLANEOUS: PCNXL2 is characterized by high mutational frequencies
CC and biallelic mutations in MSI-H colorectal tumors, and is thus likely
CC to be a target gene in these tumors.
CC -!- SIMILARITY: Belongs to the pecanex family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA23708.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB84904.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB007895; BAA23708.2; ALT_INIT; mRNA.
DR EMBL; AK074078; BAB84904.1; ALT_INIT; mRNA.
DR EMBL; AK021445; BAB13826.1; -; mRNA.
DR EMBL; AL139342; CAI18866.1; -; Genomic_DNA.
DR EMBL; AL122003; CAI18866.1; JOINED; Genomic_DNA.
DR EMBL; AL133289; CAI18866.1; JOINED; Genomic_DNA.
DR EMBL; AL133291; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL133380; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139342; CAI18867.1; -; Genomic_DNA.
DR EMBL; AL122003; CAI22240.1; -; Genomic_DNA.
DR EMBL; AL139342; CAI22240.1; JOINED; Genomic_DNA.
DR EMBL; AL133289; CAI22240.1; JOINED; Genomic_DNA.
DR EMBL; AL122003; CAI22241.1; -; Genomic_DNA.
DR EMBL; AL133289; CAI22241.1; JOINED; Genomic_DNA.
DR EMBL; AL133289; CAI22872.1; -; Genomic_DNA.
DR EMBL; AL139342; CAI22872.1; JOINED; Genomic_DNA.
DR EMBL; AL122003; CAI22872.1; JOINED; Genomic_DNA.
DR EMBL; AL133289; CAI22873.1; -; Genomic_DNA.
DR EMBL; AL122003; CAI22873.1; JOINED; Genomic_DNA.
DR EMBL; AL359819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008300; AAH08300.2; -; mRNA.
DR CCDS; CCDS44335.1; -. [A6NKB5-1]
DR RefSeq; NP_055616.3; NM_014801.3. [A6NKB5-1]
DR AlphaFoldDB; A6NKB5; -.
DR BioGRID; 123060; 9.
DR IntAct; A6NKB5; 4.
DR STRING; 9606.ENSP00000258229; -.
DR GlyGen; A6NKB5; 11 sites.
DR iPTMnet; A6NKB5; -.
DR PhosphoSitePlus; A6NKB5; -.
DR BioMuta; PCNX2; -.
DR jPOST; A6NKB5; -.
DR MassIVE; A6NKB5; -.
DR PaxDb; A6NKB5; -.
DR PeptideAtlas; A6NKB5; -.
DR PRIDE; A6NKB5; -.
DR ProteomicsDB; 1391; -. [A6NKB5-1]
DR ProteomicsDB; 1392; -. [A6NKB5-2]
DR ProteomicsDB; 1393; -. [A6NKB5-3]
DR ProteomicsDB; 1394; -. [A6NKB5-4]
DR Antibodypedia; 11747; 53 antibodies from 19 providers.
DR DNASU; 80003; -.
DR Ensembl; ENST00000258229.14; ENSP00000258229.8; ENSG00000135749.19. [A6NKB5-1]
DR Ensembl; ENST00000344698.6; ENSP00000340759.2; ENSG00000135749.19. [A6NKB5-3]
DR GeneID; 80003; -.
DR KEGG; hsa:80003; -.
DR MANE-Select; ENST00000258229.14; ENSP00000258229.8; NM_014801.4; NP_055616.3.
DR UCSC; uc001hvk.1; human. [A6NKB5-1]
DR CTD; 80003; -.
DR DisGeNET; 80003; -.
DR GeneCards; PCNX2; -.
DR HGNC; HGNC:8736; PCNX2.
DR HPA; ENSG00000135749; Low tissue specificity.
DR MIM; 617656; gene.
DR neXtProt; NX_A6NKB5; -.
DR OpenTargets; ENSG00000135749; -.
DR PharmGKB; PA33081; -.
DR VEuPathDB; HostDB:ENSG00000135749; -.
DR eggNOG; KOG3604; Eukaryota.
DR GeneTree; ENSGT00940000157374; -.
DR HOGENOM; CLU_000602_3_0_1; -.
DR InParanoid; A6NKB5; -.
DR OMA; NHKIPSN; -.
DR PhylomeDB; A6NKB5; -.
DR TreeFam; TF313570; -.
DR PathwayCommons; A6NKB5; -.
DR SignaLink; A6NKB5; -.
DR BioGRID-ORCS; 80003; 12 hits in 1060 CRISPR screens.
DR ChiTaRS; PCNX2; human.
DR GenomeRNAi; 80003; -.
DR Pharos; A6NKB5; Tdark.
DR PRO; PR:A6NKB5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; A6NKB5; protein.
DR Bgee; ENSG00000135749; Expressed in buccal mucosa cell and 180 other tissues.
DR ExpressionAtlas; A6NKB5; baseline and differential.
DR Genevisible; A6NKB5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR039797; Pecanex.
DR InterPro; IPR007735; Pecanex_C.
DR PANTHER; PTHR12372; PTHR12372; 1.
DR Pfam; PF05041; Pecanex_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..2137
FT /note="Pecanex-like protein 2"
FT /id="PRO_0000333965"
FT TRANSMEM 34..54
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 844..864
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 868..888
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 901..921
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 952..972
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 983..1003
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1029..1049
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1099..1119
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1124..1144
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1193..1213
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1237..1257
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1265..1285
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1302..1322
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1324..1344
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 92..163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 225..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 402..530
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..572
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 593..612
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 621..655
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 740..763
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1876..1958
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 92..116
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 138..163
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 233..251
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 460..518
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 593..610
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 634..655
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1894..1912
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1921..1958
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 136
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 449
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 550
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 572
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 587
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 598
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 613
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1412
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1553
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1818
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2054
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..1462
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_033605"
FT VAR_SEQ 1..1348
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:9455477"
FT /id="VSP_033606"
FT VAR_SEQ 1..867
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035048"
FT VAR_SEQ 1..701
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033607"
FT VAR_SEQ 955..987
FT /note="VFLYCFPAISLLGLFPQINTFCTYLLEQIDMLF -> GKIMNSHKDFFTSEK
FT KKDKIISAISSVIFLKSW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033608"
FT VAR_SEQ 988..2137
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033609"
FT VAR_SEQ 1280..1288
FT /note="LGDLLHKLQ -> VFLGYVRQK (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035049"
FT VAR_SEQ 1289..2137
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035050"
FT VAR_SEQ 1349..1359
FT /note="RPVKFWEKNYN -> MTFYPFVASSS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:9455477"
FT /id="VSP_033610"
FT VAR_SEQ 2081..2137
FT /note="HLSEPCEPPDATEQGQLHDRCLAEAVADTLGVVCRRASQEDMGLDDTASQQS
FT VSDEQ -> VRGWAGLTRTGWDGGTGSWPERGTCLAFPPFCLQNPIPFSMGLPE (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:9455477"
FT /id="VSP_033611"
FT VARIANT 117
FT /note="R -> K (in dbSNP:rs1033325)"
FT /id="VAR_050479"
FT VARIANT 454
FT /note="T -> A (in dbSNP:rs10910120)"
FT /id="VAR_043341"
FT VARIANT 1901
FT /note="S -> N (in dbSNP:rs56231757)"
FT /evidence="ECO:0000269|PubMed:9455477"
FT /id="VAR_061498"
FT VARIANT 1984
FT /note="R -> Q (in dbSNP:rs41309639)"
FT /id="VAR_061499"
SQ SEQUENCE 2137 AA; 237277 MW; 064D91B62BF84E44 CRC64;
MVSQVLQLLR QGVWAALTGG WYHDPEQSKF TNSCHLYLWL FLLLLPLALH LAFPPNAIIV
FFYCSAVTIF FTIIKLVSYR LHLMFDKGEV IQQKPSRKEE KPNKDKEAKG EHITNHRNPS
NNRQIHNGKK EEASRNLSTP PLRCSSRGQS ITSHHSSGPL ELSAQETVED LKGVILLEDH
PIAPVSSTSP GIKVESLPAS QAHMLETTTK SVIPVKPVAT ETLINGKGKE RGGKGQPPLR
HRSEGGLVDK GPLKKLPHLS LSQYDLLETD VSFQPWGSEN SVLIPEPVSC PRGSIRERVQ
SKSPQDSLSS SCPQCDTIVA KPVEEPADTS CQVDTSCQGD LPLHQEVDSS DSEVAVTLID
TSQPGDPLSL HEPIKIVITM SSTPNSMTDL ESSLHLRVVG TEKTSVKSDA EPTNPGAAGS
PNAEQISIPV ITLDLPEGGG GGVPCPEGNG SERTPERLKT RVSTNQCSGY GSGEGGNAIK
DHSSSSREPW ESVSRLTPDT GSESKVGKEG QTNLDPSSCK SSHEKRHARV LSVDSGTDVF
LSKSSAEIVN DTEKTMPTSK SDLEAKEGQM PNESNFLEFV SLLESINTSK MTASSQLNGS
AEQNEESGLL RDNCSQEKKE EILENEKPSG HSSKQGKPDL QSQDHTSTGP ACTQPAKTTA
FFQGNRQRQI IYRVTSQQDS SVLQVISGPE TSVQEEISVD AMHVFIDEHG EIRSCYLKSG
NQKEGPLQPL PSNNDCLSQA REMQVSSSST TTSESQDPSS GDPAVSALQQ QLLLMVARRT
QSETPRHVSQ DLEASSCSST QGKFNREQFY KFIIFPGKWI KVWYDRLTLL ALLDRTEDIK
ENVLAILLIV LVSLLGFLTL SQGFCKDMWV LLFCLVMASC QYSLLKSVQP DPASPIHGHN
QIITYSRPIY FCVLCGLILL LDTGAKARHP PSYVVYGLKL FSPVFLQSAR DYLIVFLYCF
PAISLLGLFP QINTFCTYLL EQIDMLFFGG SAVSGITSAV YSVARSVLAA ALLHAVCFSA
VKEPWSMQHI PALFSAFCGL LVALSYHLSR QSSDPSVLMS FIQCRLFPKF LHQNLAESAA
DPLPKKMKDS VTDVLKWDLI VCAVVAVLSF AVSASTVFLS LRPFLSIVLF ALAGAVGFVT
HYVLPQLRKH HPWMWISHPI LKNKEYHQRE VRDVAHLMWF ERLYVWLQCF EKYILYPALI
LNALTIDAFL ISNHRRLGTH WDIFLMIIAG MKLLRTSFCN PVYQFINLSF TVIFFHFDYK
DISESFLLDF FMVSILFSKL GDLLHKLQFV LTYVAPWQMA WGSSFHVFAQ LFAIPHSAML
FFQTIATSIF STPLSPFLGS VIFITSYVRP VKFWEKNYNT RRVDNSNTRL AVQIERDPGN
DDNNLNSIFY EHLTRTLQES LCGDLVLGRW GNYSSGDCFI LASDDLNAFV HLIEIGNGLV
TFQLRGLEFR GTYCQQREVE AIMEGDEEDR GCCCCKPGHL PHLLSCNAAF HLRWLTWEIT
QTQYILEGYS ILDNNAATML QVFDLRRILI RYYIKSIIYY MVTSPKLLSW IKNESLLKSL
QPFAKWHYIE RDLAMFNINI DDDYVPCLQG ITRASFCNVY LEWIQHCARK RQEPSTTLDS
DEDSPLVTLS FALCTLGRRA LGTAAHNMAI SLDSFLYGLH VLFKGDFRIT ARDEWVFADM
DLLHKVVAPA IRMSLKLHQD QFTCPDEYED PAVLYEAIQS FEKKVVICHE GDPAWRGAVL
SNKEELLTLR HVVDEGADEY KVIMLHRSFL SFKVIKVNKE CVRGLWAGQQ QELIFLRNRN
PERGSIQNNK QVLRNLINSS CDQPLGYPMY VSPLTTSYLG THRQLKNIWG GPITLDRIRT
WFWTKWVRMR KDCNARQHSG GNIEDVDGGG APTTGGNNAP SGGSQESSAE QPRKGGAQHG
VSSCEGTQRT GRRKGRSQSV QAHSALSQRP PMLSSSGPIL ESRQTFLQTS TSVHELAQRL
SGSRLSLHAS ATSLHSQPPP VTTTGHLSVR ERAEALIRSS LGSSTSSTLS FLFGKRSFSS
ALVISGLSAA EGGNTSDTQS SSSVNIVMGP SARAASQATR HLSEPCEPPD ATEQGQLHDR
CLAEAVADTL GVVCRRASQE DMGLDDTASQ QSVSDEQ
