| Reports |
| substitution |
| cSNPs | 4 |
| Insertion | 10 |
| Deletion | 23 |
| SNPs |
+1kb
36446224(c.-991A>G),
36446344(c.-1111C>G),
36446349(c.-1116G>C),
36446398(c.-1165G>C),
36446401(c.-1168A>G),
36446407(c.-1174A>G),
36446643(c.-1410C>A),
36446796(c.-1563A>T),
36446814(c.-1581C>T),
36446860(c.-1627G>A),
36446956(c.-1723A>G),
36446983(c.-1750A>T),
36447024(c.-1791G>A),
36447450(c.-2217A>G),
36447592(c.-2359A>C),
36447805(c.-2572C>T),
36447868(c.-2635T>C),
36448100(c.-2867G>A),
36448255(c.-3022C>T),
36448399(c.-3166G>A),
36448400(c.-3167T>C),
36448663(c.-3430C>T),
36448793(c.-3560G>A),
36448913(c.-3680T>C),
36448967(c.-3734C>T),
36449074(c.-3841G>A),
36449157(c.-3924C>G),
36449169(c.-3936C>G),
36449185(c.-3952T>C),
36449245(c.-4012C>A),
36449448(c.-4215C>A),
36449472(c.-4239G>A),
36449543(c.-4310C>T),
36449581(c.-4348G>A),
36449633(c.-4400A>T),
36449634(c.-4401C>T),
36449687(c.-4454G>A),
36449721(c.-4488A>G),
36449803(c.-4570A>G),
36449873(c.-4640G>C),
36449960(c.-4727A>G),
36449963(c.-4730A>C),
36449969(c.-4736T>C),
36449975(c.-4742C>T),
36450046(c.-4813G>A),
36450067(c.-4834C>T),
36450181(c.-4948A>G),
36450236(c.-5003A>G),
5'UTR
CDS
3'UTR
INTRON
36424562(c.935-59C>A),
36424701(c.934+137T>C),
36424737(c.934+101A>T),
36424800(c.934+38G>A),
36424963(c.815-6C>A),
36425221(c.815-264T>C),
36425317(c.815-360G>A),
36425538(c.815-581G>A),
36425539(c.815-582T>C),
36425644(c.815-687T>C),
36425724(c.815-767G>A),
36425796(c.815-839T>C),
36425846(c.815-889C>T),
36425926(c.815-969C>G),
36425982(c.815-1025T>C),
36426023(c.815-1066A>G),
36426033(c.815-1076G>C),
36426261(c.815-1304T>C),
36426287(c.815-1330G>C),
36426382(c.815-1425G>T),
36426553(c.814+1549T>C),
36426761(c.814+1341C>A),
36426785(c.814+1317T>A),
36426829(c.814+1273A>G),
36426947(c.814+1155T>C),
36427160(c.814+942G>A),
36427368(c.814+734T>C),
36427481(c.814+621A>T),
36427500(c.814+602C>T),
36427511(c.814+591C>T),
36427603(c.814+499C>T),
36427649(c.814+453G>A),
36427650(c.814+452A>C),
36427763(c.814+339C>T),
36427977(c.814+125T>C),
36429552(c.505-97G>A),
36430232(c.505-777G>A),
36430239(c.505-784A>G),
36430555(c.505-1100A>G),
36431575(c.505-2120T>C),
36432531(c.505-3076T>C),
36432717(c.505-3262G>C),
36432719(c.505-3264A>C),
36432791(c.505-3336C>T),
36432793(c.505-3338G>A),
36432896(c.505-3441T>C),
36432910(c.505-3455T>C),
36432945(c.505-3490G>A),
36433056(c.505-3601A>G),
36433083(c.505-3628A>G),
36433249(c.505-3794T>G),
36433599(c.505-4144C>T),
36433766(c.505-4311T>C),
36433908(c.505-4453T>C),
36434235(c.504+4515T>C),
36434250(c.504+4500T>C),
36434276(c.504+4474G>T),
36434289(c.504+4461G>A),
36434297(c.504+4453A>G),
36434335(c.504+4415A>G),
36434337(c.504+4413A>G),
36434691(c.504+4059G>T),
36434934(c.504+3816C>T),
36435064(c.504+3686A>G),
36435071(c.504+3679T>C),
36435087(c.504+3663C>T),
36435140(c.504+3610T>A),
36435253(c.504+3497C>T),
36435396(c.504+3354G>T),
36435697(c.504+3053G>A),
36435782(c.504+2968T>C),
36435803(c.504+2947G>A),
36436006(c.504+2744A>G),
36436059(c.504+2691A>G),
36436106(c.504+2644A>G),
36436166(c.504+2584T>A),
36436297(c.504+2453A>T),
36436471(c.504+2279T>C),
36436572(c.504+2178A>C),
36436630(c.504+2120G>A),
36436798(c.504+1952C>T),
36436856(c.504+1894A>G),
36436861(c.504+1889C>G),
36437086(c.504+1664C>T),
36437281(c.504+1469G>A),
36437291(c.504+1459G>A),
36437367(c.504+1383G>A),
36437565(c.504+1185G>A),
36437566(c.504+1184A>G),
36437863(c.504+887A>G),
36437880(c.504+870C>T),
36437900(c.504+850A>G),
36437968(c.504+782G>A),
36437996(c.504+754G>C),
36438004(c.504+746T>C),
36438194(c.504+556G>A),
36438417(c.504+333C>T),
36438493(c.504+257T>A),
36438681(c.504+69G>A),
36438684(c.504+66G>C),
36438704(c.504+46T>C),
36438717(c.504+33T>C),
36438840(c.422-8C>T),
36439089(c.422-257A>G),
36439540(c.421+69G>A),
36439749(c.304-23C>T),
36439902(c.304-176A>G),
36439950(c.304-224A>G),
36440083(c.304-357A>G),
36440463(c.304-737T>A),
36440729(c.304-1003G>C),
36441088(c.304-1362T>G),
36441101(c.304-1375T>C),
36441159(c.304-1433T>A),
36441190(c.304-1464G>C),
36441218(c.304-1492C>T),
36443457(c.303+34C>T),
36443750(c.185-141A>C),
36443839(c.185-230A>C),
36443863(c.185-254A>C),
36443929(c.185-320T>A),
36443987(c.185-378T>C),
36444340(c.184+710T>C),
36444375(c.184+675A>G),
36444415(c.184+635C>A),
36444648(c.184+402G>A),
36444660(c.184+390G>A),
-1kb
36418388(c.*5973T>C),
36418422(c.*5939A>G),
36418443(c.*5918C>T),
36418621(c.*5740C>T),
36418858(c.*5503T>C),
36418861(c.*5500G>A),
36418937(c.*5424C>A),
36419398(c.*4963T>C),
36419399(c.*4962A>C),
36419991(c.*4370A>G),
36420190(c.*4171C>A),
36420470(c.*3891G>T),
36420659(c.*3702A>T),
36421122(c.*3239G>C),
36421201(c.*3160G>C),
36421906(c.*2455T>C),
36421916(c.*2445C>T),
36422182(c.*2179T>C),
36422185(c.*2176G>A),
36422193(c.*2168A>G),
36422209(c.*2152G>A),
36422217(c.*2144A>G),
36422575(c.*1786C>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
36425199 (c.815-245_815-243delTTT),
36427001 (c.814+1099_814+1100delAA),
36430157 (c.505-711_505-703delCCAATGACT),
36431719 (c.505-2266_505-2265delTT),
36431733 (c.505-2286_505-2279delATATATAT),
36431976 (c.505-2527_505-2522delGTTTTT),
36432539 (c.505-3085delA),
36432889 (c.505-3435delC),
36434760 (c.504+3985_504+3989delTTTTT),
36436215 (c.504+2534delA),
36441157 (c.304-1432delT),
36443014 (c.303+475_303+476delTC),
36443618 (c.185-10delC),
36444604 (c.184+442_184+445delTTCC),
36444670 (c.184+376_184+379delTCGG),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 1 |
| synonymous substitutions |
36428169 (p.Glu249Glu),
36428426 (p.Asn191Asn),
36443551 (p.Thr81Thr),
|
| non-synonymous substitutions |
36445187 (p.Arg16His),
|
B6 transcript
(ENSMUST00000115011)
|
MAAASRPSWWQRWRRRAWARDGAKLLLFLLLLGSGPGPRHVRAGQAVEYLKREHSLSKPY
QGVGTSSSSLWNLMGNAMVMTQYIRLTPDMQSKQGALWNRVPCFLKDWELQVHFKIHGQG
KKNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQHEAQKRRYSPGVQR
VFPYISAMVNNGSLSYDHERDGRPTELGGCTAIVRNIRYDTFLVIRYVKRHLTIMMDIDG
KHEWRDCIEMPGVRLPRGYYFGTSSITGDLSDNHDVISLKLFELTGVRTPEEEKLHRDVF
LPSVDNLKLPEMTVPPTPLSGLALFLIVFFSLVFSVFAIVIGIILYNKWQDQSRKRFY*
|
|
MSMv4 transcript
|
MAAASRPSWWQRWRRHAWARDGAKLLLFLLLLGSGPGPRHVRAGQAVEYLKREHSLSKPY
QGVGTSSSSLWNLMGNAMVMTQYIRLTPDMQSKQGALWNRVPCFLKDWELQVHFKIHGQG
KKNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQHEAQKRRYSPGVQR
VFPYISAMVNNGSLSYDHERDGRPTELGGCTAIVRNIRYDTFLVIRYVKRHLTIMMDIDG
KHEWRDCIEMPGVRLPRGYYFGTSSITGDLSDNHDVISLKLFELTGVRTPEEEKLHRDVF
LPSVDNLKLPEMTVPPTPLSGLALFLIVFFSLVFSVFAIVIGIILYNKWQDQSRKRFY*
|
| homology | 99.72 (359 / 359) |
|