FSD2_HUMAN
ID FSD2_HUMAN Reviewed; 749 AA.
AC A1L4K1; B3KVG1; B7ZM02;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Fibronectin type III and SPRY domain-containing protein 2;
DE AltName: Full=SPRY domain-containing protein 1;
GN Name=FSD2; Synonyms=SPRYD1;
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 1).
RC TISSUE=Heart;
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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 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).
CC -!- SUBUNIT: Interacts with CMYA5 (By similarity). In cardiac muscles,
CC identified in a complex composed of FSD2, CMYA5 and RYR2 (By
CC similarity). {ECO:0000250|UniProtKB:Q8BZ52}.
CC -!- INTERACTION:
CC A1L4K1; P29972: AQP1; NbExp=3; IntAct=EBI-5661036, EBI-745213;
CC A1L4K1; P53365: ARFIP2; NbExp=3; IntAct=EBI-5661036, EBI-638194;
CC A1L4K1; Q6ZNE5: ATG14; NbExp=3; IntAct=EBI-5661036, EBI-2690371;
CC A1L4K1; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-5661036, EBI-745073;
CC A1L4K1; Q00994: BEX3; NbExp=6; IntAct=EBI-5661036, EBI-741753;
CC A1L4K1; Q9H0E9-2: BRD8; NbExp=6; IntAct=EBI-5661036, EBI-10304361;
CC A1L4K1; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-5661036, EBI-747505;
CC A1L4K1; Q9P1Y5-2: CAMSAP3; NbExp=3; IntAct=EBI-5661036, EBI-18121830;
CC A1L4K1; Q9HC52: CBX8; NbExp=6; IntAct=EBI-5661036, EBI-712912;
CC A1L4K1; Q8NEF3: CCDC112; NbExp=3; IntAct=EBI-5661036, EBI-745040;
CC A1L4K1; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-5661036, EBI-744556;
CC A1L4K1; Q8IYE0: CCDC146; NbExp=3; IntAct=EBI-5661036, EBI-10749669;
CC A1L4K1; Q8TD31-3: CCHCR1; NbExp=6; IntAct=EBI-5661036, EBI-10175300;
CC A1L4K1; Q6P1J9: CDC73; NbExp=9; IntAct=EBI-5661036, EBI-930143;
CC A1L4K1; Q07002: CDK18; NbExp=3; IntAct=EBI-5661036, EBI-746238;
CC A1L4K1; P31146: CORO1A; NbExp=7; IntAct=EBI-5661036, EBI-1046676;
CC A1L4K1; P78358: CTAG1B; NbExp=3; IntAct=EBI-5661036, EBI-1188472;
CC A1L4K1; Q2TBE0: CWF19L2; NbExp=3; IntAct=EBI-5661036, EBI-5453285;
CC A1L4K1; O43602-2: DCX; NbExp=3; IntAct=EBI-5661036, EBI-14148644;
CC A1L4K1; O60941-5: DTNB; NbExp=3; IntAct=EBI-5661036, EBI-11984733;
CC A1L4K1; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-5661036, EBI-744099;
CC A1L4K1; P10768: ESD; NbExp=7; IntAct=EBI-5661036, EBI-1052334;
CC A1L4K1; O60645: EXOC3; NbExp=3; IntAct=EBI-5661036, EBI-1052278;
CC A1L4K1; O95990-3: FAM107A; NbExp=3; IntAct=EBI-5661036, EBI-10192902;
CC A1L4K1; Q9BQ89: FAM110A; NbExp=3; IntAct=EBI-5661036, EBI-1752811;
CC A1L4K1; Q3B820: FAM161A; NbExp=3; IntAct=EBI-5661036, EBI-719941;
CC A1L4K1; Q9Y247: FAM50B; NbExp=3; IntAct=EBI-5661036, EBI-742802;
CC A1L4K1; Q86YD7: FAM90A1; NbExp=6; IntAct=EBI-5661036, EBI-6658203;
CC A1L4K1; O95363: FARS2; NbExp=3; IntAct=EBI-5661036, EBI-2513774;
CC A1L4K1; Q06787-8: FMR1; NbExp=3; IntAct=EBI-5661036, EBI-10224470;
CC A1L4K1; P56524-2: HDAC4; NbExp=3; IntAct=EBI-5661036, EBI-11953488;
CC A1L4K1; O14964: HGS; NbExp=3; IntAct=EBI-5661036, EBI-740220;
CC A1L4K1; Q8IY31: IFT20; NbExp=3; IntAct=EBI-5661036, EBI-744203;
CC A1L4K1; Q7Z3B3: KANSL1; NbExp=3; IntAct=EBI-5661036, EBI-740244;
CC A1L4K1; Q2TBA0: KLHL40; NbExp=3; IntAct=EBI-5661036, EBI-7851314;
CC A1L4K1; Q6PJG3: LATS1; NbExp=3; IntAct=EBI-5661036, EBI-10253976;
CC A1L4K1; Q96BZ8: LENG1; NbExp=6; IntAct=EBI-5661036, EBI-726510;
CC A1L4K1; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-5661036, EBI-739832;
CC A1L4K1; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-5661036, EBI-348259;
CC A1L4K1; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-5661036, EBI-14086479;
CC A1L4K1; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-5661036, EBI-10172526;
CC A1L4K1; Q9Y3B7: MRPL11; NbExp=6; IntAct=EBI-5661036, EBI-5453723;
CC A1L4K1; O43482: OIP5; NbExp=3; IntAct=EBI-5661036, EBI-536879;
CC A1L4K1; Q96HP4: OXNAD1; NbExp=3; IntAct=EBI-5661036, EBI-2862111;
CC A1L4K1; Q5JS98: PBX3; NbExp=3; IntAct=EBI-5661036, EBI-10244393;
CC A1L4K1; Q96AL5: PBX3; NbExp=3; IntAct=EBI-5661036, EBI-741171;
CC A1L4K1; Q8N381: PIK3R3; NbExp=3; IntAct=EBI-5661036, EBI-749096;
CC A1L4K1; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-5661036, EBI-10171633;
CC A1L4K1; Q9UGP5-2: POLL; NbExp=4; IntAct=EBI-5661036, EBI-10320765;
CC A1L4K1; Q6NYC8: PPP1R18; NbExp=6; IntAct=EBI-5661036, EBI-2557469;
CC A1L4K1; Q14738: PPP2R5D; NbExp=3; IntAct=EBI-5661036, EBI-396563;
CC A1L4K1; Q99633: PRPF18; NbExp=3; IntAct=EBI-5661036, EBI-2798416;
CC A1L4K1; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-5661036, EBI-1567797;
CC A1L4K1; P28070: PSMB4; NbExp=3; IntAct=EBI-5661036, EBI-603350;
CC A1L4K1; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-5661036, EBI-1504830;
CC A1L4K1; O76064: RNF8; NbExp=3; IntAct=EBI-5661036, EBI-373337;
CC A1L4K1; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-5661036, EBI-748391;
CC A1L4K1; Q9H788: SH2D4A; NbExp=6; IntAct=EBI-5661036, EBI-747035;
CC A1L4K1; Q9H788-2: SH2D4A; NbExp=3; IntAct=EBI-5661036, EBI-10308083;
CC A1L4K1; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-5661036, EBI-455078;
CC A1L4K1; O95295: SNAPIN; NbExp=3; IntAct=EBI-5661036, EBI-296723;
CC A1L4K1; Q9H0A9: SPATC1L; NbExp=4; IntAct=EBI-5661036, EBI-372911;
CC A1L4K1; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-5661036, EBI-11995806;
CC A1L4K1; Q8N8B7: TCEANC; NbExp=3; IntAct=EBI-5661036, EBI-954696;
CC A1L4K1; Q9BT49: THAP7; NbExp=3; IntAct=EBI-5661036, EBI-741350;
CC A1L4K1; Q08117: TLE5; NbExp=4; IntAct=EBI-5661036, EBI-717810;
CC A1L4K1; Q08117-2: TLE5; NbExp=3; IntAct=EBI-5661036, EBI-11741437;
CC A1L4K1; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-5661036, EBI-10241197;
CC A1L4K1; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-5661036, EBI-9090990;
CC A1L4K1; P0CB47: UBTFL1; NbExp=3; IntAct=EBI-5661036, EBI-17208936;
CC A1L4K1; Q14119: VEZF1; NbExp=3; IntAct=EBI-5661036, EBI-11980193;
CC A1L4K1; Q53FD0: ZC2HC1C; NbExp=3; IntAct=EBI-5661036, EBI-740767;
CC A1L4K1; Q96NC0: ZMAT2; NbExp=3; IntAct=EBI-5661036, EBI-2682299;
CC A1L4K1; Q15973: ZNF124; NbExp=3; IntAct=EBI-5661036, EBI-2555767;
CC A1L4K1; P17024: ZNF20; NbExp=3; IntAct=EBI-5661036, EBI-717634;
CC A1L4K1; Q9UIE0: ZNF230; NbExp=3; IntAct=EBI-5661036, EBI-1105361;
CC A1L4K1; P13682: ZNF35; NbExp=3; IntAct=EBI-5661036, EBI-11041653;
CC A1L4K1; Q9H9D4: ZNF408; NbExp=3; IntAct=EBI-5661036, EBI-347633;
CC A1L4K1; Q86VK4: ZNF410; NbExp=3; IntAct=EBI-5661036, EBI-720304;
CC A1L4K1; Q86VK4-3: ZNF410; NbExp=3; IntAct=EBI-5661036, EBI-11741890;
CC A1L4K1; Q8TAU3: ZNF417; NbExp=6; IntAct=EBI-5661036, EBI-740727;
CC A1L4K1; Q9ULM2: ZNF490; NbExp=3; IntAct=EBI-5661036, EBI-1105370;
CC A1L4K1; Q7Z3I7: ZNF572; NbExp=7; IntAct=EBI-5661036, EBI-10172590;
CC A1L4K1; Q9UK33: ZNF580; NbExp=3; IntAct=EBI-5661036, EBI-746277;
CC A1L4K1; Q9P0T4: ZNF581; NbExp=6; IntAct=EBI-5661036, EBI-745520;
CC A1L4K1; Q96SQ5: ZNF587; NbExp=6; IntAct=EBI-5661036, EBI-6427977;
CC A1L4K1; Q5T619: ZNF648; NbExp=3; IntAct=EBI-5661036, EBI-11985915;
CC A1L4K1; P36508: ZNF76; NbExp=3; IntAct=EBI-5661036, EBI-7254550;
CC A1L4K1; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-5661036, EBI-10251462;
CC A1L4K1; Q9ULD5: ZNF777; NbExp=3; IntAct=EBI-5661036, EBI-11975599;
CC A1L4K1; Q9Y2P0: ZNF835; NbExp=3; IntAct=EBI-5661036, EBI-5667516;
CC A1L4K1; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-5661036, EBI-11962574;
CC A1L4K1; Q16670: ZSCAN26; NbExp=3; IntAct=EBI-5661036, EBI-3920053;
CC A1L4K1; Q9H6F0; NbExp=3; IntAct=EBI-5661036, EBI-10307481;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:H0UZ81}.
CC Sarcoplasmic reticulum {ECO:0000250|UniProtKB:H0UZ81}. Cytoplasm,
CC perinuclear region {ECO:0000250|UniProtKB:H0UZ81}. Note=In skeletal
CC muscles and striated muscles flanks Z-disks. Partially colocalizes with
CC RYR2 in the sarcoplasmic reticulum. {ECO:0000250|UniProtKB:H0UZ81}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A1L4K1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A1L4K1-2; Sequence=VSP_054600;
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DR EMBL; AK122875; BAG53773.1; -; mRNA.
DR EMBL; AC044907; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105339; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC130569; AAI30570.1; -; mRNA.
DR EMBL; BC144175; AAI44176.1; -; mRNA.
DR CCDS; CCDS45332.1; -. [A1L4K1-1]
DR CCDS; CCDS61738.1; -. [A1L4K1-2]
DR RefSeq; NP_001007123.1; NM_001007122.3. [A1L4K1-1]
DR RefSeq; NP_001268734.1; NM_001281805.1. [A1L4K1-2]
DR RefSeq; NP_001268735.1; NM_001281806.1. [A1L4K1-2]
DR RefSeq; XP_005272482.1; XM_005272425.4. [A1L4K1-1]
DR AlphaFoldDB; A1L4K1; -.
DR SMR; A1L4K1; -.
DR BioGRID; 125831; 126.
DR IntAct; A1L4K1; 96.
DR STRING; 9606.ENSP00000335651; -.
DR iPTMnet; A1L4K1; -.
DR PhosphoSitePlus; A1L4K1; -.
DR BioMuta; FSD2; -.
DR jPOST; A1L4K1; -.
DR MassIVE; A1L4K1; -.
DR PaxDb; A1L4K1; -.
DR PeptideAtlas; A1L4K1; -.
DR PRIDE; A1L4K1; -.
DR ProteomicsDB; 152; -. [A1L4K1-1]
DR ProteomicsDB; 7242; -.
DR Antibodypedia; 55562; 119 antibodies from 21 providers.
DR DNASU; 123722; -.
DR Ensembl; ENST00000334574.12; ENSP00000335651.8; ENSG00000186628.12. [A1L4K1-1]
DR Ensembl; ENST00000541889.1; ENSP00000444078.1; ENSG00000186628.12. [A1L4K1-2]
DR GeneID; 123722; -.
DR KEGG; hsa:123722; -.
DR MANE-Select; ENST00000334574.12; ENSP00000335651.8; NM_001007122.4; NP_001007123.1.
DR UCSC; uc002bjd.4; human. [A1L4K1-1]
DR CTD; 123722; -.
DR DisGeNET; 123722; -.
DR GeneCards; FSD2; -.
DR HGNC; HGNC:18024; FSD2.
DR HPA; ENSG00000186628; Group enriched (heart muscle, skeletal muscle, tongue).
DR neXtProt; NX_A1L4K1; -.
DR OpenTargets; ENSG00000186628; -.
DR PharmGKB; PA38279; -.
DR VEuPathDB; HostDB:ENSG00000186628; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00940000158441; -.
DR HOGENOM; CLU_022856_0_0_1; -.
DR InParanoid; A1L4K1; -.
DR OMA; HFQHYVH; -.
DR OrthoDB; 508782at2759; -.
DR PhylomeDB; A1L4K1; -.
DR TreeFam; TF315216; -.
DR PathwayCommons; A1L4K1; -.
DR SignaLink; A1L4K1; -.
DR BioGRID-ORCS; 123722; 13 hits in 1066 CRISPR screens.
DR ChiTaRS; FSD2; human.
DR GenomeRNAi; 123722; -.
DR Pharos; A1L4K1; Tbio.
DR PRO; PR:A1L4K1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; A1L4K1; protein.
DR Bgee; ENSG00000186628; Expressed in left ventricle myocardium and 94 other tissues.
DR ExpressionAtlas; A1L4K1; baseline and differential.
DR Genevisible; A1L4K1; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB.
DR GO; GO:0016529; C:sarcoplasmic reticulum; ISS:UniProtKB.
DR CDD; cd00063; FN3; 2.
DR Gene3D; 2.60.120.920; -; 1.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR043136; B30.2/SPRY_sf.
DR InterPro; IPR003879; Butyrophylin_SPRY.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003877; SPRY_dom.
DR Pfam; PF00041; fn3; 1.
DR Pfam; PF00622; SPRY; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00060; FN3; 2.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
DR PROSITE; PS50853; FN3; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Nucleus; Reference proteome;
KW Repeat; Sarcoplasmic reticulum.
FT CHAIN 1..749
FT /note="Fibronectin type III and SPRY domain-containing
FT protein 2"
FT /id="PRO_0000317362"
FT DOMAIN 375..470
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 471..564
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 546..744
FT /note="B30.2/SPRY"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00548"
FT COILED 205..317
FT /evidence="ECO:0000255"
FT VAR_SEQ 423..467
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054600"
FT VARIANT 333
FT /note="K -> T (in dbSNP:rs4779061)"
FT /id="VAR_051001"
FT VARIANT 720
FT /note="E -> K (in dbSNP:rs1108134)"
FT /id="VAR_051002"
SQ SEQUENCE 749 AA; 85385 MW; A4AFC0677A4FE38B CRC64;
MEEESGEELG LDRSTPKDFH FYHMDLYDSE DRLHLFPEEN TRMRKVVQAE MANESRGAGD
GKAQRDLQEE VDELVHLYGL EDDHELGDEF VDENIPRTGV SEYPPYMMKR RDPAREQRDW
RLSGEAAEAE DLGFGGWGSA GQCQDLREAY RYTHGRASEE YECYVIPEEE DEEEAADVFC
VTCKTPIRAF QKVFDEHKEH EVIPLNEALE SAKDEIHKNM YKLEKQIIEM ENFANHLEEV
FITVEENFGK QEQNFESHYN EILETLAQKY EEKIQALGEK KKEKLEALYG QLVSCGENLD
TCKELMETIE EMCHEEKVDF IKDAVAMADR LGKFLKTKTD VEISAQPEFE DQTLDFSDVE
QLMGSINTIP APSAPVINPQ VPNSATGSSV RVCWSLYSDD TVESYQLSYR PVQDSSPGTD
QAEFTVTVKE TYCSVTNLVP NTQYEFWVTA HNRAGPSPSS ERAVYMTAPS PPIIKTKEIR
SCEEAVLICW ESGNLNPVDS YTVELTQAES PEASGVTESV VGIPTCESVV QLQPGRSYII
YVRALNMGGP SVRSEPATVH TIGSYFRLNK DTCHPWLTIS EDGLTAVRSE RRTPARELSP
SDTHFTRCVA VMGNLIPVRG HHYWEVEVDE HLDYRVGVAF ADVRKQEDLG ANCLSWCMRH
TFASSRHKYE FLHNRTTPDI RITVPPKKIG ILLDYEHSKL SFFNVDLSQH LYTFSCQLHE
FVHPCFSLEK PGCLKVHNGI SMPKHVTFY
