| Reports |
|---|
| substitution |
|---|
| cSNPs | 21 |
|---|
| Insertion | 5 |
|---|
| Deletion | 9 |
|---|
| SNPs |
-1kb
93463939(c.-5559C>G),
93463944(c.-5554G>A),
93463972(c.-5526G>T),
93463986(c.-5512A>T),
93464055(c.-5443C>T),
93464183(c.-5315C>A),
93464279(c.-5219A>G),
93464324(c.-5174A>G),
93464452(c.-5046T>C),
93464453(c.-5045G>C),
93464455(c.-5043G>C),
93464460(c.-5038T>C),
93465346(c.-4152G>A),
93465394(c.-4104G>A),
93465855(c.-3643A>T),
93465908(c.-3590G>A),
93466773(c.-2725T>C),
93467495(c.-2003G>C),
93467498(c.-2000G>A),
93467507(c.-1991C>T),
93467577(c.-1921G>T),
93467666(c.-1832A>G),
93467834(c.-1664C>T),
93468153(c.-1345A>G),
93468184(c.-1314G>A),
93468326(c.-1172T>C),
- 5'UTR
- CDS
93469501(c.4C>T),
93469551(c.54C>T),
93469568(c.71G>A),
93470329(c.339T>C),
93470610(c.620T>C),
93470618(c.628G>T),
93470669(c.679A>G),
93470831(c.841A>G),
93471109(c.1119T>C),
93471113(c.1123T>C),
93471127(c.1137T>A),
93471217(c.1227T>C),
93471415(c.1425C>T),
93471429(c.1439T>C),
93471668(c.1678G>A),
93471677(c.1687G>A),
93471770(c.1780C>T),
93471829(c.1839G>A),
93471859(c.1869G>C),
93471862(c.1872A>T),
93471875(c.1885G>T),
- 3'UTR
- INTRON
93468821(c.-22+13G>C),
93468912(c.-22+104A>G),
93469286(c.-21-191C>T),
93469331(c.-21-146A>G),
93469348(c.-21-129C>T),
93469355(c.-21-122T>C),
93469371(c.-21-106C>A),
93469647(c.141+9G>C),
93469663(c.141+25C>T),
93469745(c.141+107C>T),
93469800(c.141+162C>T),
93469912(c.142-220G>A),
93470042(c.142-90T>A),
93470049(c.142-83A>T),
-
+1kb
93472209(c.*302A>T),
93472295(c.*388G>T),
93472428(c.*521C>A),
93472503(c.*596C>A),
93472521(c.*614G>C),
93472549(c.*642T>C),
93472804(c.*897G>C),
93472831(c.*924A>G),
93472908(c.*1001C>A),
93472959(c.*1052G>A),
93472963(c.*1056T>C),
93472967(c.*1060T>C),
93473183(c.*1276G>A),
93473251(c.*1344G>A),
93473263(c.*1356G>A),
93473408(c.*1501C>A),
93473410(c.*1503T>A),
93473739(c.*1832T>C),
93473887(c.*1980T>C),
93473922(c.*2015C>T),
93474120(c.*2213T>G),
93474127(c.*2220T>G),
93474130(c.*2223C>T),
93474310(c.*2403C>T),
93474327(c.*2420T>G),
93474331(c.*2424G>A),
93474344(c.*2437A>T),
93474361(c.*2454T>G),
93474381(c.*2474T>G),
93474529(c.*2622T>C),
93474691(c.*2784C>A),
93475387(c.*3480G>C),
93475454(c.*3547A>G),
93475985(c.*4078G>A),
93476026(c.*4119A>G),
93476116(c.*4209G>A),
93476384(c.*4477G>A),
93476600(c.*4693C>T),
93476657(c.*4750T>C),
93476673(c.*4766T>G),
93476692(c.*4785C>T),
93476755(c.*4848G>T),
93476897(c.*4990T>C),
|
|---|
| 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 | 7 |
|---|
| non-synonymous num | 14 |
|---|
| synonymous substitutions |
93469551 (p.Tyr18Tyr),
93470329 (p.Ile113Ile),
93471109 (p.Thr373Thr),
93471217 (p.Ser409Ser),
93471415 (p.His475His),
93471829 (p.Glu613Glu),
93471859 (p.Gly623Gly),
|
|---|
| non-synonymous substitutions |
93469501 (p.Pro2Ser),
93469568 (p.Gly24Asp),
93470610 (p.Val207Ala),
93470618 (p.Val210Leu),
93470669 (p.Lys227Glu),
93470831 (p.Arg281Gly),
93471113 (p.Ser375Pro),
93471127 (p.Asp379Glu),
93471429 (p.Ile480Thr),
93471668 (p.Ala560Thr),
93471677 (p.Glu563Lys),
93471770 (p.His594Tyr),
93471862 (p.Arg624Ser),
93471875 (p.Ala629Ser),
|
|---|
B6 transcript
(ENSMUST00000029516)
|
MPRLLRGVFCVVEIFHKYAIEDGGNQATLTRTELRQLLEGEIGDFLQPHVFHAVERKLNL
LNFDRDGTISFEEFVLAIFSLLNPSYFDISLLNSEPRLMSKSEKIDAVDLGAIGGNIQQV
VGVGPTQERLIFPSEMASSGQPSNEEGEVGDEPMVSPCEDIKTHSLPRNVSEPNDPENQQ
PKEDAQEVAQNVPATEYDGVQFKRNTVVEVPKQSTSPTQEIPRERSKPSRRLSDTKISDH
MIQRPTEDEEHTSTTQDPFLQKRDKATGSENTDLSVVAATRKSSQTQEIFEPMDDTKLSE
AQETGKDAGRIPPETNLEEPKADAKVAESHGLPAQEREHNTRDQSVQSRSRNVSETSSRG
EQEGEWKEHERITLSPTADAETQDEKCQEFPGSWRENDAKKDSAAKDPSSEEGNQNLPEI
KEDSVSGKEARHSEEDTVYAFEINKNSPAAEETLETRERSQELAPLEKQSQRKKHRATRI
QDKPVRKEDHNEGEDSELSLTQSDEGFCEIPNSLAPEVGKSSSEIAEPHVPEDSQSQIDH
HGDAKQESHTNNPDPQKQGAPGESSREQEAVVLSIQEDGQLPEGQEQSARDGLHDGLSSR
TKGGPGAAVEPSEGEEVQEATAGRENRKALEAESLEAQ*
|
|
MSMv4 transcript
|
MSRLLRGVFCVVEIFHKYAIEDGDNQATLTRTELRQLLEGEIGDFLQPHVFHAVERKLNL
LNFDRDGTISFEEFVLAIFSLLNPSYFDISLLNSEPRLMSKSEKIDAVDLGAIGGNIQQV
VGVGPTQERLIFPSEMASSGQPSNEEGEVGDEPMVSPCEDIKTHSLPRNVSEPNDPENQQ
PKEDAQEVAQNVPATEYDGVQFKRNTAVELPKQSTSPTQEIPRERSEPSRRLSDTKISDH
MIQRPTEDEEHTSTTQDPFLQKRDKATGSENTDLSVVAATGKSSQTQEIFEPMDDTKLSE
AQETGKDAGRIPPETNLEEPKADAKVAESHGLPAQEREHNTRDQSVQSRSRNVSETSSRG
EQEGEWKEHERITLPPTAEAETQDEKCQEFPGSWRENDAKKDSAAKDPSSEEGNQNLPEI
KEDSVSGKEARHSEEDTVYAFEINKNSPAAEETLETRERSQELAPLEKQSQRKKHRATRT
QDKPVRKEDHNEGEDSELSLTQSDEGFCEIPNSLAPEVGKSSSEIAEPHVPEDSQSQIDH
HGDAKQESHTNNPDPQKQGTPGKSSREQEAVVLSIQEDGQLPEGQEQSARDGLYDGLSSR
TKGGPGAAVEPSEGEEVQEATAGSENRKSLEAESLEAQ*
|
| homology | 97.81 (639 / 639) |
|---|
|
