CFA65_HUMAN
ID CFA65_HUMAN Reviewed; 1925 AA.
AC Q6ZU64; A2BDD8; E9PCR1; E9PG25; E9PG72; Q6ZSR8; Q8N0T4; Q8NDJ3;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Cilia- and flagella-associated protein 65 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 108 {ECO:0000312|HGNC:HGNC:25325};
GN Name=CFAP65 {ECO:0000312|HGNC:HGNC:25325};
GN Synonyms=CCDC108 {ECO:0000312|HGNC:HGNC:25325};
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), AND VARIANT LEU-66.
RC TISSUE=Testis;
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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 704-1925 (ISOFORM 1), AND VARIANT LEU-66.
RC TISSUE=Brain;
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 821-1215 (ISOFORM 1).
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 FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH CFAP47.
RX PubMed=33472045; DOI=10.1016/j.ajhg.2021.01.002;
RA Liu C., Tu C., Wang L., Wu H., Houston B.J., Mastrorosa F.K., Zhang W.,
RA Shen Y., Wang J., Tian S., Meng L., Cong J., Yang S., Jiang Y., Tang S.,
RA Zeng Y., Lv M., Lin G., Li J., Saiyin H., He X., Jin L., Toure A.,
RA Ray P.F., Veltman J.A., Shi Q., O'Bryan M.K., Cao Y., Tan Y.Q., Zhang F.;
RT "Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and
RT primary male infertility.";
RL Am. J. Hum. Genet. 108:309-323(2021).
RN [6]
RP VARIANT SPGF40 1781-GLU--PRO-1925 DEL.
RX PubMed=28552195; DOI=10.1016/j.ajhg.2017.04.012;
RA Tang S., Wang X., Li W., Yang X., Li Z., Liu W., Li C., Zhu Z., Wang L.,
RA Wang J., Zhang L., Sun X., Zhi E., Wang H., Li H., Jin L., Luo Y., Wang J.,
RA Yang S., Zhang F.;
RT "Biallelic mutations in CFAP43 and CFAP44 cause male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Am. J. Hum. Genet. 100:854-864(2017).
RN [7]
RP VARIANT SPGF40 892-TRP--PRO-1925 DEL, AND INVOLVEMENT IN SPGF40.
RX PubMed=31571197; DOI=10.1111/cge.13644;
RA Zhang X., Shen Y., Wang X., Yuan G., Zhang C., Yang Y.;
RT "A novel homozygous CFAP65 mutation in humans causes male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Clin. Genet. 96:541-548(2019).
RN [8]
RP INVOLVEMENT IN SPGF40, SUBCELLULAR LOCATION, AND VARIANTS SPGF40
RP 762-ARG--PRO-1925 DEL; LYS-1007 AND 1781-GLU--PRO-1925 DEL.
RX PubMed=31413122; DOI=10.1136/jmedgenet-2019-106031;
RA Wang W., Tu C., Nie H., Meng L., Li Y., Yuan S., Zhang Q., Du J., Wang J.,
RA Gong F., Fan L., Lu G.X., Lin G., Tan Y.Q.;
RT "Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to
RT acrosome hypoplasia and flagellum malformations.";
RL J. Med. Genet. 56:750-757(2019).
RN [9]
RP INVOLVEMENT IN SPGF40, AND VARIANTS SPGF40 ARG-1016; 1619-ARG--PRO-1925
RP DEL; 1757-LEU--PRO-1925 DEL AND 1781-GLU--PRO-1925 DEL.
RX PubMed=31501240; DOI=10.1136/jmedgenet-2019-106344;
RA Li W., Wu H., Li F., Tian S., Kherraf Z.E., Zhang J., Ni X., Lv M., Liu C.,
RA Tan Q., Shen Y., Amiri-Yekta A., Cazin C., Zhang J., Liu W., Zheng Y.,
RA Cheng H., Wu Y., Wang J., Gao Y., Chen Y., Zha X., Jin L., Liu M., He X.,
RA Ray P.F., Cao Y., Zhang F.;
RT "Biallelic mutations in CFAP65 cause male infertility with multiple
RT morphological abnormalities of the sperm flagella in humans and mice.";
RL J. Med. Genet. 57:89-95(2020).
RN [10]
RP VARIANTS GLU-639 AND PHE-1240.
RX PubMed=28585349; DOI=10.1002/humu.23270;
RA Poirier K., Hubert L., Viot G., Rio M., Billuart P., Besmond C.,
RA Bienvenu T.;
RT "CSNK2B splice site mutations in patients cause intellectual disability
RT with or without myoclonic epilepsy.";
RL Hum. Mutat. 38:932-941(2017).
CC -!- FUNCTION: Plays a role in flagellar formation and sperm motility.
CC {ECO:0000305|PubMed:33472045}.
CC -!- SUBUNIT: Interacts with CFAP47. {ECO:0000269|PubMed:33472045}.
CC -!- INTERACTION:
CC Q6ZU64-3; O95273: CCNDBP1; NbExp=3; IntAct=EBI-10255250, EBI-748961;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000269|PubMed:33472045}; Single-pass membrane protein
CC {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:33472045};
CC Single-pass type I membrane protein {ECO:0000255}. Cytoplasm
CC {ECO:0000269|PubMed:31413122}. Note=Expressed in flagella midpiece and
CC acrosome of mature spermatozoa. {ECO:0000269|PubMed:31413122,
CC ECO:0000269|PubMed:33472045}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6ZU64-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZU64-3; Sequence=VSP_045221, VSP_045222, VSP_045223;
CC Name=3;
CC IsoId=Q6ZU64-4; Sequence=VSP_045221, VSP_055632, VSP_055633;
CC Name=4;
CC IsoId=Q6ZU64-5; Sequence=VSP_055631, VSP_055632, VSP_055633;
CC -!- DISEASE: Spermatogenic failure 40 (SPGF40) [MIM:618664]: An autosomal
CC recessive infertility disorder characterized by severely reduced or
CC absent sperm motility, due to multiple morphologic anomalies such as
CC absent, short, bent, coiled and irregular-caliber tails. Patient
CC spermatozoa may also show morphologic defects of the sperm head.
CC {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:31413122,
CC ECO:0000269|PubMed:31501240, ECO:0000269|PubMed:31571197}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the CFAP65 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86362.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC86878.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
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DR EMBL; AK125957; BAC86362.1; ALT_INIT; mRNA.
DR EMBL; AK127189; BAC86878.1; ALT_SEQ; mRNA.
DR EMBL; AC097468; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031585; AAH31585.1; -; mRNA.
DR EMBL; BC130281; AAI30282.1; -; mRNA.
DR EMBL; AL833882; CAD38738.1; -; mRNA.
DR CCDS; CCDS2430.2; -. [Q6ZU64-1]
DR CCDS; CCDS2431.2; -. [Q6ZU64-3]
DR CCDS; CCDS63125.1; -. [Q6ZU64-4]
DR CCDS; CCDS63126.1; -. [Q6ZU64-5]
DR RefSeq; NP_689602.2; NM_152389.3. [Q6ZU64-3]
DR RefSeq; NP_919278.2; NM_194302.3. [Q6ZU64-1]
DR AlphaFoldDB; Q6ZU64; -.
DR BioGRID; 129075; 3.
DR IntAct; Q6ZU64; 3.
DR STRING; 9606.ENSP00000340776; -.
DR iPTMnet; Q6ZU64; -.
DR PhosphoSitePlus; Q6ZU64; -.
DR BioMuta; CFAP65; -.
DR DMDM; 148841209; -.
DR EPD; Q6ZU64; -.
DR MassIVE; Q6ZU64; -.
DR PaxDb; Q6ZU64; -.
DR PeptideAtlas; Q6ZU64; -.
DR PRIDE; Q6ZU64; -.
DR ProteomicsDB; 19496; -.
DR ProteomicsDB; 20228; -.
DR ProteomicsDB; 20258; -.
DR ProteomicsDB; 68312; -. [Q6ZU64-1]
DR Antibodypedia; 34298; 43 antibodies from 10 providers.
DR DNASU; 255101; -.
DR Ensembl; ENST00000295729.6; ENSP00000295729.2; ENSG00000181378.14. [Q6ZU64-3]
DR Ensembl; ENST00000341552.10; ENSP00000340776.5; ENSG00000181378.14. [Q6ZU64-1]
DR Ensembl; ENST00000409865.7; ENSP00000386945.3; ENSG00000181378.14. [Q6ZU64-5]
DR Ensembl; ENST00000410037.5; ENSP00000386258.1; ENSG00000181378.14. [Q6ZU64-4]
DR Ensembl; ENST00000453220.5; ENSP00000409117.1; ENSG00000181378.14. [Q6ZU64-1]
DR GeneID; 255101; -.
DR KEGG; hsa:255101; -.
DR MANE-Select; ENST00000341552.10; ENSP00000340776.5; NM_194302.4; NP_919278.2.
DR UCSC; uc002vjl.3; human. [Q6ZU64-1]
DR CTD; 255101; -.
DR DisGeNET; 255101; -.
DR GeneCards; CFAP65; -.
DR HGNC; HGNC:25325; CFAP65.
DR HPA; ENSG00000181378; Tissue enhanced (choroid plexus, fallopian tube, retina, testis).
DR MalaCards; CFAP65; -.
DR MIM; 614270; gene.
DR MIM; 618664; phenotype.
DR neXtProt; NX_Q6ZU64; -.
DR OpenTargets; ENSG00000181378; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR PharmGKB; PA145008681; -.
DR VEuPathDB; HostDB:ENSG00000181378; -.
DR eggNOG; ENOG502QSJW; Eukaryota.
DR GeneTree; ENSGT00430000031142; -.
DR HOGENOM; CLU_000944_1_0_1; -.
DR InParanoid; Q6ZU64; -.
DR OMA; ASFYSMD; -.
DR OrthoDB; 1127899at2759; -.
DR PhylomeDB; Q6ZU64; -.
DR TreeFam; TF329056; -.
DR PathwayCommons; Q6ZU64; -.
DR SignaLink; Q6ZU64; -.
DR BioGRID-ORCS; 255101; 8 hits in 1072 CRISPR screens.
DR ChiTaRS; CFAP65; human.
DR GenomeRNAi; 255101; -.
DR Pharos; Q6ZU64; Tdark.
DR PRO; PR:Q6ZU64; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZU64; protein.
DR Bgee; ENSG00000181378; Expressed in right uterine tube and 85 other tissues.
DR ExpressionAtlas; Q6ZU64; baseline and differential.
DR Genevisible; Q6ZU64; HS.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0001669; C:acrosomal vesicle; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 7.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR000535; MSP_dom.
DR PROSITE; PS50202; MSP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoplasmic vesicle;
KW Disease variant; Flagellum; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1925
FT /note="Cilia- and flagella-associated protein 65"
FT /id="PRO_0000288805"
FT TRANSMEM 188..208
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 877..986
FT /note="MSP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00132"
FT REGION 1645..1667
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1736..1823
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1525..1550
FT /evidence="ECO:0000255"
FT COMPBIAS 1645..1659
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1741..1764
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1765..1801
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..65
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045221"
FT VAR_SEQ 1..34
FT /note="MFTLTGCRLVEKTQKVENPSVSFASSFPLIPLLL -> METAIWRRSYISLI
FT SSERPVHNW (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_055631"
FT VAR_SEQ 182..229
FT /note="PPKTKFFFTVIPQPIFLSPGITLTLPIVFRPLEAKEYMDQLWFEKAEG ->
FT YQYKGSRTQCHSLEPRKQALFKTKQNKQKKPLTCHIKASECLKYVQYE (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045222"
FT VAR_SEQ 230..1925
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045223"
FT VAR_SEQ 739..795
FT /note="LQSYSNIEEDCTMCPSWCLTVRARGHSYFAGFEHHIPQYSLDVPKLFPAVSS
FT GEPTY -> CARNEREECGVSARSLSGLVGWQEVTEGSFRLHPLRARLSLGWTVTPMSL
FT SPPKLLA (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_055632"
FT VAR_SEQ 796..1925
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_055633"
FT VARIANT 66
FT /note="M -> L (in dbSNP:rs6736922)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032500"
FT VARIANT 639
FT /note="D -> E"
FT /evidence="ECO:0000269|PubMed:28585349"
FT /id="VAR_083656"
FT VARIANT 672
FT /note="V -> I (in dbSNP:rs13403802)"
FT /id="VAR_050726"
FT VARIANT 762..1925
FT /note="Missing (in SPGF40)"
FT /evidence="ECO:0000269|PubMed:31413122"
FT /id="VAR_083169"
FT VARIANT 806
FT /note="K -> M (in dbSNP:rs9653262)"
FT /id="VAR_050727"
FT VARIANT 892..1925
FT /note="Missing (in SPGF40)"
FT /evidence="ECO:0000269|PubMed:31571197"
FT /id="VAR_083170"
FT VARIANT 1007
FT /note="N -> K (in SPGF40; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31413122"
FT /id="VAR_083171"
FT VARIANT 1016
FT /note="L -> R (in SPGF40; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31501240"
FT /id="VAR_083172"
FT VARIANT 1240
FT /note="I -> F"
FT /evidence="ECO:0000269|PubMed:28585349"
FT /id="VAR_083657"
FT VARIANT 1619..1925
FT /note="Missing (in SPGF40)"
FT /evidence="ECO:0000269|PubMed:31501240"
FT /id="VAR_083173"
FT VARIANT 1757..1925
FT /note="Missing (in SPGF40)"
FT /evidence="ECO:0000269|PubMed:31501240"
FT /id="VAR_083174"
FT VARIANT 1781..1925
FT /note="Missing (in SPGF40)"
FT /evidence="ECO:0000269|PubMed:28552195,
FT ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:31501240"
FT /id="VAR_080903"
FT VARIANT 1858
FT /note="N -> S (in dbSNP:rs11893183)"
FT /id="VAR_050728"
FT CONFLICT 129
FT /note="H -> R (in Ref. 1; BAC86878)"
FT /evidence="ECO:0000305"
FT CONFLICT 320
FT /note="T -> A (in Ref. 1; BAC86878)"
FT /evidence="ECO:0000305"
FT CONFLICT 665
FT /note="G -> W (in Ref. 1; BAC86878)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1925 AA; 217250 MW; 000CFE2B83394B42 CRC64;
MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
PTDLP
