| Reports |
| substitution |
| cSNPs | 16 |
| Insertion | 18 |
| Deletion | 17 |
| SNPs |
-1kb
40436214(c.-4536C>T),
40436268(c.-4482A>G),
40436274(c.-4476A>G),
40436552(c.-4198A>G),
40436659(c.-4091C>T),
40436671(c.-4079C>T),
40436699(c.-4051A>G),
40436704(c.-4046G>T),
40436706(c.-4044T>G),
40436731(c.-4019G>A),
40436773(c.-3977C>T),
40436952(c.-3798G>A),
40437060(c.-3690T>C),
40437218(c.-3532T>C),
40437299(c.-3451T>C),
40437327(c.-3423A>C),
40437403(c.-3347G>A),
40437502(c.-3248T>A),
40437588(c.-3162A>G),
40437656(c.-3094A>G),
40437852(c.-2898G>A),
40437898(c.-2852G>A),
40437972(c.-2778A>G),
40438541(c.-2209C>T),
40438558(c.-2192C>T),
40438578(c.-2172A>T),
40438800(c.-1950G>C),
40438923(c.-1827C>A),
40439030(c.-1720C>G),
40439205(c.-1545A>C),
40439384(c.-1366A>G),
40439402(c.-1348C>G),
40439537(c.-1213T>C),
40439541(c.-1209T>C),
40439945(c.-805A>T),
40440452(c.-298G>C),
40440563(c.-187A>G),
40440573(c.-177A>G),
40440590(c.-160C>T),
5'UTR
CDS
40440763(c.14A>G),
40440795(c.46A>G),
40440804(c.55A>G),
40441293(c.81T>C),
40441356(c.144G>A),
40446588(c.898A>C),
40446626(c.936C>T),
40450192(c.1103A>G),
40450193(c.1104T>C),
40450215(c.1126C>T),
40450220(c.1131C>T),
40451751(c.1191G>A),
40451757(c.1197C>T),
40451823(c.1263A>G),
40451848(c.1288T>C),
40462111(c.1646C>T),
3'UTR
40462217(c.*48C>A),
40462231(c.*62C>T),
40462244(c.*75C>T),
40462705(c.*536T>C),
40462851(c.*682C>T),
40462975(c.*806C>T),
40462985(c.*816A>T),
40463051(c.*882C>A),
40463063(c.*894A>G),
40463164(c.*995G>T),
40463184(c.*1015C>T),
40463281(c.*1112G>A),
40463308(c.*1139G>A),
40463524(c.*1355C>T),
40463669(c.*1500A>T),
40463772(c.*1603C>T),
40463781(c.*1612C>T),
40463974(c.*1805G>A),
40464173(c.*2004G>A),
40464185(c.*2016T>C),
40464284(c.*2115A>G),
40464395(c.*2226T>G),
40464533(c.*2364C>T),
40464534(c.*2365A>G),
40464716(c.*2547C>T),
40464717(c.*2548A>G),
40465128(c.*2959T>C),
40465149(c.*2980C>T),
40465173(c.*3004T>C),
40465196(c.*3027G>C),
40465226(c.*3057C>G),
40465309(c.*3140A>G),
INTRON
40440863(c.79+35G>T),
40441204(c.80-88T>C),
40441256(c.80-36A>G),
40441512(c.290+10A>G),
40441558(c.290+56T>C),
40441561(c.290+59T>A),
40441752(c.290+250A>C),
40441798(c.290+296A>C),
40441803(c.290+301T>G),
40441810(c.290+308T>C),
40441917(c.291-389T>A),
40441960(c.291-346C>T),
40442101(c.291-205T>G),
40442120(c.291-186T>C),
40442191(c.291-115C>A),
40443380(c.628+619T>G),
40443429(c.628+668A>G),
40443826(c.629-508A>G),
40444043(c.629-291T>C),
40444046(c.629-288T>C),
40444115(c.629-219G>A),
40444526(c.697+124A>G),
40444960(c.697+558G>A),
40444970(c.697+568G>A),
40445029(c.697+627G>A),
40445290(c.698-797C>T),
40445404(c.698-683A>G),
40445506(c.698-581A>G),
40445562(c.698-525T>G),
40445570(c.698-517C>A),
40445634(c.698-453T>G),
40445716(c.698-371T>C),
40445854(c.698-233A>G),
40445924(c.698-163A>C),
40446014(c.698-73T>C),
40446472(c.840-58G>C),
40446489(c.840-41G>A),
40446514(c.840-16T>C),
40446793(c.985+118A>T),
40446883(c.985+208C>T),
40447011(c.985+336A>G),
40447313(c.985+638A>G),
40447586(c.985+911T>C),
40447640(c.985+965G>A),
40447737(c.985+1062G>A),
40448065(c.985+1390T>C),
40448199(c.985+1524T>A),
40448213(c.985+1538G>C),
40448229(c.985+1554C>T),
40448556(c.986-1519G>A),
40448653(c.986-1422A>C),
40448713(c.986-1362T>C),
40448729(c.986-1346G>C),
40448905(c.986-1170G>A),
40448914(c.986-1161G>A),
40448935(c.986-1140G>A),
40448968(c.986-1107T>C),
40448984(c.986-1091G>A),
40449011(c.986-1064A>G),
40449267(c.986-808C>T),
40449272(c.986-803A>T),
40449287(c.986-788C>T),
40449302(c.986-773C>A),
40449351(c.986-724C>T),
40449366(c.986-709A>C),
40449401(c.986-674C>T),
40449403(c.986-672C>T),
40449486(c.986-589A>G),
40449488(c.986-587T>C),
40449573(c.986-502G>A),
40449685(c.986-390C>T),
40449696(c.986-379C>T),
40449862(c.986-213C>T),
40449926(c.986-149A>T),
40449952(c.986-123G>A),
40449996(c.986-79G>A),
40450059(c.986-16C>T),
40450272(c.1132+51C>A),
40450390(c.1132+169A>G),
40450438(c.1132+217T>C),
40450480(c.1132+259A>G),
40450508(c.1132+287T>G),
40450719(c.1132+498A>G),
40450740(c.1132+519A>T),
40450799(c.1132+578C>T),
40451283(c.1133-410T>A),
40451300(c.1133-393A>T),
40451561(c.1133-132G>A),
40451587(c.1133-106G>T),
40451617(c.1133-76A>C),
40451645(c.1133-48A>G),
40451965(c.1300+105A>C),
40451993(c.1300+133T>C),
40452209(c.1300+349G>C),
40458884(c.1301-2882T>C),
40459008(c.1301-2758T>C),
40459016(c.1301-2750C>T),
40459040(c.1301-2726A>G),
40459270(c.1301-2496T>A),
40459271(c.1301-2495G>T),
40459272(c.1301-2494A>G),
40459276(c.1301-2490C>T),
40459302(c.1301-2464G>A),
40459304(c.1301-2462C>T),
40459394(c.1301-2372A>T),
40459701(c.1301-2065C>T),
40460474(c.1301-1292G>A),
40460509(c.1301-1257G>T),
40460517(c.1301-1249A>G),
40460927(c.1301-839A>G),
40460945(c.1301-821T>A),
40460989(c.1301-777A>G),
40461147(c.1301-619A>G),
40461235(c.1301-531C>T),
40461275(c.1301-491C>T),
40461302(c.1301-464T>C),
40461308(c.1301-458T>C),
40461375(c.1301-391A>G),
40461517(c.1301-249T>C),
40461676(c.1301-90A>G),
+1kb
40465564(c.*3395C>G),
40465671(c.*3502G>C),
40465687(c.*3518T>C),
40465775(c.*3606T>G),
40465797(c.*3628T>C),
40465902(c.*3733G>A),
40466096(c.*3927A>C),
40466133(c.*3964T>C),
40466252(c.*4083T>A),
40467088(c.*4919C>T),
40467098(c.*4929T>C),
40467179(c.*5010C>T),
40467343(c.*5174G>A),
40467405(c.*5236C>T),
40467440(c.*5271G>A),
40467582(c.*5413A>T),
40467814(c.*5645C>T),
40467952(c.*5783T>A),
40468219(c.*6050T>C),
40468276(c.*6107T>C),
40468375(c.*6206T>C),
40468376(c.*6207T>C),
40468561(c.*6392A>G),
40468568(c.*6399G>C),
40468678(c.*6509T>C),
40468778(c.*6609A>C),
40468831(c.*6662A>T),
40468837(c.*6668A>G),
40468844(c.*6675A>G),
40469084(c.*6915T>C),
40469085(c.*6916G>A),
40469157(c.*6988T>C),
40469190(c.*7021G>T),
40469671(c.*7502G>A),
40469683(c.*7514C>T),
40469723(c.*7554G>A),
40470026(c.*7857T>C),
40470222(c.*8053A>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 9 |
| non-synonymous num | 7 |
| synonymous substitutions |
40441293 (p.Ser27Ser),
40441356 (p.Ser48Ser),
40446626 (p.Asn312Asn),
40450193 (p.Asp368Asp),
40450220 (p.Asn377Asn),
40451751 (p.Ala397Ala),
40451757 (p.Thr399Thr),
40451823 (p.Lys421Lys),
40451848 (p.Leu430Leu),
|
| non-synonymous substitutions |
40440763 (p.Gln5Arg),
40440795 (p.Thr16Ala),
40440804 (p.Met19Val),
40446588 (p.Lys300Gln),
40450192 (p.Asp368Gly),
40450215 (p.Arg376Trp),
40462111 (p.Thr549Met),
|
B6 transcript
(ENSMUST00000053043)
|
MIDRQRMGLWALAILTLPMYLTVTEGSKSSWGLENEALIVRCPQRGRSTYPVEWYYSDTN
ESIPTQKRNRIFVSRDRLKFLPARVEDSGIYACVIRSPNLNKTGYLNVTIHKKPPSCNIP
DYLMYSTVRGSDKNFKITCPTIDLYNWTAPVQWFKNCKALQEPRFRAHRSYLFIDNVTHD
DEGDYTCQFTHAENGTNYIVTATRSFTVEEKGFSMFPVITNPPYNHTMEVEIGKPASIAC
SACFGKGSHFLADVLWQINKTVVGNFGEARIQEEEGRNESSSNDMDCLTSVLRITGVTEK
DLSLEYDCLALNLHGMIRHTIRLRRKQPIDHRSIYYIVAGCSLLLMFINVLVIVLKVFWI
EVALFWRDIVTPYKTRNDGKLYDAYIIYPRVFRGSAAGTHSVEYFVHHTLPDVLENKCGY
KLCIYGRDLLPGQDAATVVESSIQNSRRQVFVLAPHMMHSKEFAYEQEIALHSALIQNNS
KVILIEMEPLGEASRLQVGDLQDSLQHLVKIQGTIKWREDHVADKQSLSSKFWKHVRYQM
PVPERASKTASVAAPLSGKACLDLKHF*
|
|
MSMv4 transcript
|
MIDRRRMGLWALAILALPVYLTVTEGSKSSWGLENEALIVRCPQRGRSTYPVEWYYSDTN
ESIPTQKRNRIFVSRDRLKFLPARVEDSGIYACVIRSPNLNKTGYLNVTIHKKPPSCNIP
DYLMYSTVRGSDKNFKITCPTIDLYNWTAPVQWFKNCKALQEPRFRAHRSYLFIDNVTHD
DEGDYTCQFTHAENGTNYIVTATRSFTVEEKGFSMFPVITNPPYNHTMEVEIGKPASIAC
SACFGKGSHFLADVLWQINKTVVGNFGEARIQEEEGRNESSSNDMDCLTSVLRITGVTEQ
DLSLEYDCLALNLHGMIRHTIRLRRKQPIDHRSIYYIVAGCSLLLMFINVLVIVLKVFWI
EVALFWRGIVTPYKTWNDGKLYDAYIIYPRVFRGSAAGTHSVEYFVHHTLPDVLENKCGY
KLCIYGRDLLPGQDAATVVESSIQNSRRQVFVLAPHMMHSKEFAYEQEIALHSALIQNNS
KVILIEMEPLGEASRLQVGDLQDSLQHLVKIQGTIKWREDHVADKQSLSSKFWKHVRYQM
PVPERASKMASVAAPLSGKACLDLKHF*
|
| homology | 98.77 (568 / 568) |
|