Reports |
substitution |
cSNPs | 12 |
Insertion | 10 |
Deletion | 19 |
SNPs |
+1kb
48507036(c.-97A>G),
48507153(c.-214G>A),
48507228(c.-289T>A),
48507323(c.-384T>C),
48507367(c.-428T>C),
48507428(c.-489G>A),
48508216(c.-1277C>T),
48508451(c.-1512T>C),
48509118(c.-2179A>C),
48509204(c.-2265A>G),
48509337(c.-2398G>A),
48509460(c.-2521G>A),
48509528(c.-2589T>A),
48509530(c.-2591T>C),
48509723(c.-2784G>A),
48509745(c.-2806G>A),
48511235(c.-4296T>C),
48511514(c.-4575A>T),
5'UTR
CDS
48489508(c.2142T>C),
48489655(c.1995T>C),
48489796(c.1854G>C),
48489886(c.1764A>G),
48490009(c.1641C>T),
48490279(c.1371T>C),
48490468(c.1182T>G),
48490501(c.1149C>T),
48490762(c.888T>C),
48490840(c.810G>T),
48490979(c.671G>C),
48491030(c.620T>G),
3'UTR
INTRON
48491519(c.257-126T>G),
48491668(c.257-275C>T),
48491669(c.257-276T>G),
48491881(c.257-488T>G),
48491933(c.257-540C>T),
48492638(c.257-1245C>T),
48492695(c.257-1302A>C),
48492817(c.257-1424G>T),
48492847(c.257-1454G>T),
48492900(c.257-1507A>G),
48492937(c.257-1544C>T),
48493042(c.257-1649C>T),
48493054(c.257-1661A>G),
48493131(c.257-1738A>G),
48493189(c.257-1796A>T),
48493579(c.257-2186A>G),
48496030(c.256+2293C>T),
48496142(c.256+2181T>A),
48496144(c.256+2179A>G),
48496148(c.256+2175C>T),
48496222(c.256+2101A>T),
48497189(c.256+1134A>T),
48497427(c.256+896G>T),
48497566(c.256+757G>C),
48497568(c.256+755A>T),
48498019(c.256+304T>C),
48498095(c.256+228C>T),
48498291(c.256+32T>C),
48499014(c.34-108T>G),
48499187(c.34-281T>G),
48499637(c.34-731A>G),
48499912(c.34-1006C>T),
48500454(c.34-1548A>C),
48500868(c.34-1962A>G),
48501145(c.34-2239A>C),
48501662(c.34-2756T>G),
48501768(c.34-2862C>G),
48502215(c.34-3309A>G),
48502761(c.34-3855G>T),
48502783(c.34-3877A>G),
48503024(c.33+3883T>A),
48503458(c.33+3449C>T),
48503848(c.33+3059A>G),
48504603(c.33+2304A>T),
48504800(c.33+2107A>G),
48505072(c.33+1835C>G),
48505078(c.33+1829C>G),
48505084(c.33+1823C>G),
48505090(c.33+1817C>G),
48505096(c.33+1811C>G),
48505102(c.33+1805G>C),
48505108(c.33+1799G>C),
48505114(c.33+1793G>C),
48505800(c.33+1107A>G),
48506302(c.33+605A>G),
48506590(c.33+317C>T),
-1kb
48484714(c.*4740G>A),
48484722(c.*4732G>T),
48484768(c.*4686G>A),
48484781(c.*4673T>C),
48484871(c.*4583G>C),
48484892(c.*4562C>T),
48485181(c.*4273T>G),
48485220(c.*4234T>C),
48485221(c.*4233T>C),
48485319(c.*4135T>C),
48485347(c.*4107T>G),
48485364(c.*4090A>G),
48485416(c.*4038A>G),
48485447(c.*4007C>T),
48485503(c.*3951C>G),
48485549(c.*3905G>T),
48485552(c.*3902G>T),
48485807(c.*3647C>T),
48485861(c.*3593A>G),
48485926(c.*3528G>A),
48485945(c.*3509A>G),
48485956(c.*3498T>G),
48485961(c.*3493T>G),
48486019(c.*3435A>T),
48486043(c.*3411A>G),
48486059(c.*3395T>C),
48486077(c.*3377A>G),
48486089(c.*3365C>A),
48486128(c.*3326C>T),
48486142(c.*3312T>C),
48486254(c.*3200A>G),
48486308(c.*3146G>A),
48486312(c.*3142T>G),
48486393(c.*3061T>G),
48486529(c.*2925T>C),
48486565(c.*2889T>C),
48486578(c.*2876A>G),
48486608(c.*2846C>G),
48486674(c.*2780A>G),
48486885(c.*2569T>A),
48486944(c.*2510A>G),
48487139(c.*2315T>C),
48487145(c.*2309A>G),
48487169(c.*2285G>A),
48487320(c.*2134C>T),
48487415(c.*2039T>C),
48487473(c.*1981T>C),
48487784(c.*1670C>T),
48487823(c.*1631T>G),
48487910(c.*1544G>A),
48488257(c.*1197C>A),
48488463(c.*991A>G),
48488499(c.*955C>T),
48488694(c.*760T>G),
48488941(c.*513G>A),
48489024(c.*430T>C),
48489136(c.*318C>T),
48489344(c.*110G>T),
48489429(c.*25A>G),
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
48492169 (c.257-781_257-777delGCGTG),
48494508 (c.257-3117_257-3116delAA),
48494516 (c.257-3125_257-3124delAA),
48495528 (c.256+2794delA),
48496211 (c.256+2111delT),
48496268 (c.256+2047_256+2054delTAACTACT),
48501953 (c.34-3050_34-3048delAAA),
48504005 (c.33+2901delA),
48504487 (c.33+2418_33+2419delAC),
48504890 (c.33+2013_33+2016delCCCA),
48505465 (c.33+1434_33+1441delTTTTTTTT),
48506465 (c.33+434_33+441delCTGTCCTG),
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 10 |
non-synonymous num | 2 |
synonymous substitutions |
48489508 (p.Arg714Arg),
48489655 (p.Leu665Leu),
48489796 (p.Thr618Thr),
48489886 (p.Thr588Thr),
48490009 (p.Thr547Thr),
48490279 (p.Pro457Pro),
48490468 (p.Gly394Gly),
48490501 (p.Ser383Ser),
48490762 (p.Tyr296Tyr),
48490840 (p.Ala270Ala),
|
non-synonymous substitutions |
48490979 (p.Ser224Thr),
48491030 (p.Val207Gly),
|
B6 transcript
(ENSMUST00000110110)
|
MAPGLLTTRDKALMAFHDVAVAFSQMEWELLSPAQRILYRDVMLENYSHLVSLGIAFSKP
KLITQLEQGAEPWRDGSGCFLDLCPEPRTELEPSLSSPVSFASPEVLRVCVLNGPPSQTF
PSPPAGSNFQSEAPGCSSNEGGEERDSSDALLQRTSPTRILKTFFSPCQDQAAYWVEGDS
KQTDLGLAPEEAVTVLKGPDESASGAVLHGAFPLGLDDVTNLFSPQKHHVFPDCGGGFCQ
SSDLMKLQRMDGVEKPYSCSECGHQFAQKASLTVHQRKHSGEKPHVCEECGRGFMYVSSL
NSHKKIIHSGESPLVCPECGRGFRQKIDLLLHQRTHLDKKPFVCPECGRGFCRKASLLQH
SWSHSGDNPFICSVCGRGFRLLSRLLTHQVTHSGEKPHVCPDCGQRFGQKGTLMRHQKTH
TGEKPFVCRQCGWSFTQKVNLIRHQRIHTEVKPFLCPECGRAFEFKSLLTRHRKTHMGEK
PYVCPQCGRGFSQKFNLIGHQRIHTGELPFLCPECGRAFVKQSMLIRHQRTHAGWEKPYQ
CPECGRTFEFKSLLTRHQKIHTGEKPYVCPQCGRGFSQKFNLIGHQKTHTGEKPYACPQC
GQRFRQKFNLARHQRIHTGEKPFLCAECGRAFGKKVSLIRHQRTHGEEKPYQCTECGRAF
EFKSLFIRHQKTHTGEKPYVCPECGKAFSQKFNLIGHQRSHTGEKPYLCPQCGRAFAFKS
LLTRHQRTHSK*
|
MSMv4 transcript
|
MAPGLLTTRDKALMAFHDVAVAFSQMEWELLSPAQRILYRDVMLENYSHLVSLGIAFSKP
KLITQLEQGAEPWRDGSGCFLDLCPEPRTELEPSLSSPVSFASPEVLRVCVLNGPPSQTF
PSPPAGSNFQSEAPGCSSNEGGEERDSSDALLQRTSPTRILKTFFSPCQDQAAYWVEGDS
KQTDLGLAPEEAVTVLKGPDESASGAGLHGAFPLGLDDVTNLFTPQKHHVFPDCGGGFCQ
SSDLMKLQRMDGVEKPYSCSECGHQFAQKASLTVHQRKHSGEKPHVCEECGRGFMYVSSL
NSHKKIIHSGESPLVCPECGRGFRQKIDLLLHQRTHLDKKPFVCPECGRGFCRKASLLQH
SWSHSGDNPFICSVCGRGFRLLSRLLTHQVTHSGEKPHVCPDCGQRFGQKGTLMRHQKTH
TGEKPFVCRQCGWSFTQKVNLIRHQRIHTEVKPFLCPECGRAFEFKSLLTRHRKTHMGEK
PYVCPQCGRGFSQKFNLIGHQRIHTGELPFLCPECGRAFVKQSMLIRHQRTHAGWEKPYQ
CPECGRTFEFKSLLTRHQKIHTGEKPYVCPQCGRGFSQKFNLIGHQKTHTGEKPYACPQC
GQRFRQKFNLARHQRIHTGEKPFLCAECGRAFGKKVSLIRHQRTHGEEKPYQCTECGRAF
EFKSLFIRHQKTHTGEKPYVCPECGKAFSQKFNLIGHQRSHTGEKPYLCPQCGRAFAFKS
LLTRHQRTHSK*
|
homology | 99.73 (732 / 732) |
|