Aminokiselinska sekvenca
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Dužina polipeptidnog lanca je 2.155 aminokiselina , а molekulska težina 239.527 Da .[8]
10 20 30 40 50 MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK LAIPVFFFGV PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW ADVHNGIRGE IYYRETMEPA ILKRATKDIR KYFKDMATFS ATWVFIVTWE EVTFYGGSST TPVNTFQAVL VSDGSYTFTL FNYYEINWTT GTASGGDPLT GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN VPGRWAFKVD GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR QCLQTSSLPF FSVEAKNEHR RGSAVSWVKE LSVEVNGYKI LIPKGSYGRV KVNDLVTSLP VTLDLGTVKI YQSGISTAVE TDFGLLVTFD GQHYASISVP GSYINSTCGL CGNYNKNPLD DFLRPDGRPA MSVLDLGESW RVYHADWKCD SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV VDPTAFVHSC VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC GCDFDGHYYT MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED GYQGCFPKRE TVCLLSQNQV LHTFDGASYA FPSEFSYTLL KTCPERPEYL EIDINKKKPD AGPAWLRGLR ILVADQEVKI GGIGASEVKL NGQEVELPFF HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT YFNCTGGLCG FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE SELCDSVARY ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC ETLTLGPICV DSCSEGCQCD EGYALLGSQC VTRSECGCNF EGHQLATNET FWVDLDCQIF CYCSGTDNRV HCETIPCKDD EYCMEEGGLY YCQARTDASC IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK FVVTAKNEDR DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD DLEMPMGLLA SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL CSLIPNQNAA FSKCHSKVNP TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS TCQTQGITVT GWRNYTSCTV TCPPNSHYES CVSVCQPRCA AIRLKSDCSH YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF WNSDCTRRCR CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN EEQILINDRN TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY NGFNVIKISI SERLQNKVCG LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS WKTNGMQKRP LAPSCNELQF SQYAAMCDNV HIQKMQGDGY CLKLTDMKGF FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA CRSFGILSTE WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI NNTKGNCGNI VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY ELDIKISLDS VVKPMLSVIN LTVPTQEGSF ITKMALYKNA SYKHPYRQGE VVLTTRDVLY VGVFVVGADA THLILTLNKC YATPTRDSND KLRYFIIEGG CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC AVSLCDSEKY SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK SGTTS
^ a b c GRCh38: Ensembl release 89: ENSG00000109927 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037705 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Hughes DC, Legan PK, Steel KP, Richardson GP (Apr 1998). "Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness". Genomics . 48 (1): 46–51. doi :10.1006/geno.1997.5159 . PMID 9503015 . ^ Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (maj 1998). "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment". Nat Genet . 19 (1): 60–2. doi :10.1038/ng0598-60 . PMID 9590290 . S2CID 24814696 . ^ a b "Entrez Gene: TECTA tectorin alpha" .^ "UniProt, O75443" . Pristupljeno 27. 8. 2021 .
Dopunska literatura
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Van Camp G, Willems PJ, Smith RJ (1997). "Nonsyndromic hearing impairment: unparalleled heterogeneity" . Am. J. Hum. Genet . 60 (4): 758–64. PMC 1712474 PMID 9106521 . Verhoeven K, Van Camp G, Govaerts PJ, et al. (1997). "A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24" . Am. J. Hum. Genet . 60 (5): 1168–73. PMC 1712440 PMID 9150164 . Balciuniene J, Dahl N, Borg E, et al. (1998). "Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family" . Am. J. Hum. Genet . 63 (3): 786–93. doi :10.1086/302012 . PMC 1377400 PMID 9718342 . Mustapha M, Weil D, Chardenoux S, et al. (1999). "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21" . Hum. Mol. Genet . 8 (3): 409–12. doi :10.1093/hmg/8.3.409 PMID 9949200 . Alloisio N, Morlé L, Bozon M, et al. (1999). "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss" . Eur. J. Hum. Genet . 7 (2): 255–8. doi :10.1038/sj.ejhg.5200273 PMID 10196713 . Balciuniene J, Dahl N, Jalonen P, et al. (2000). "Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes". Hum. Genet . 105 (3): 211–6. doi :10.1007/s004390051091 . PMID 10987647 . Moreno-Pelayo MA, del Castillo I, Villamar M, et al. (2001). "A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family" . J. Med. Genet . 38 (5): E13. doi :10.1136/jmg.38.5.e13 . PMC 1734870 PMID 11333869 . Iwasaki S, Harada D, Usami S, et al. (2002). "Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss" . Arch. Otolaryngol. Head Neck Surg . 128 (8): 913–7. doi :10.1001/archotol.128.8.913 PMID 12162770 . Naz S, Alasti F, Mowjoodi A, et al. (2003). "Distinctive audiometric profile associated with DFNB21 alleles of TECTA" . J. Med. Genet . 40 (5): 360–3. doi :10.1136/jmg.40.5.360 . PMC 1735454 PMID 12746400 . Pfister M, Thiele H, Van Camp G, et al. (2005). "A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations". Cell. Physiol. Biochem . 14 (4–6): 369–76. doi :10.1159/000080347 . PMID 15319541 . S2CID 42513598 . Plantinga RF, de Brouwer AP, Huygen PL, et al. (2006). "A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation" . J. Assoc. Res. Otolaryngol . 7 (2): 173–81. doi :10.1007/s10162-006-0033-z . PMC 2504577 PMID 16718611 . Plantinga RF, Cremers CW, Huygen PL, et al. (2007). "Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family" . J. Assoc. Res. Otolaryngol . 8 (1): 1–7. doi :10.1007/s10162-006-0060-9 . PMC 2538417 PMID 17136632 . Meyer NC, Alasti F, Nishimura CJ, et al. (2007). "Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus". Am. J. Med. Genet. A . 143 (14): 1623–9. doi :10.1002/ajmg.a.31718 . PMID 17431902 . S2CID 31657425 . Meyer NC, Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree". Clin. Genet . 72 (2): 130–7. doi :10.1111/j.1399-0004.2007.00828.x . PMID 17661817 . S2CID 38393510 .
Vanjski linkovi
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