| Reports |
|---|
| substitution |
|---|
| cSNPs | 6 |
|---|
| Insertion | 7 |
|---|
| Deletion | 18 |
|---|
| SNPs |
-1kb
51646779(c.-5006T>C),
51647057(c.-4728A>G),
51647262(c.-4523G>A),
51647383(c.-4402G>T),
51647501(c.-4284A>G),
51647572(c.-4213C>T),
51647600(c.-4185C>A),
51647760(c.-4025G>A),
51648610(c.-3175G>A),
51648669(c.-3116G>A),
51648696(c.-3089A>G),
51649358(c.-2427A>G),
51649505(c.-2280G>T),
51650943(c.-842A>G),
51651222(c.-563A>G),
51651353(c.-432A>G),
51651641(c.-144G>C),
- 5'UTR
- CDS
- 3'UTR
- INTRON
51652134(c.36+314C>G),
51652172(c.36+352A>C),
51652180(c.36+360A>G),
51652205(c.36+385T>C),
51652270(c.37-337A>G),
51652331(c.37-276C>A),
51652899(c.185+144T>C),
51652918(c.185+163A>G),
51652919(c.185+164A>C),
51652960(c.185+205C>A),
51653015(c.185+260C>T),
51653076(c.185+321G>A),
51653131(c.185+376G>A),
51653210(c.185+455C>T),
51653372(c.185+617T>C),
51653645(c.186-741G>A),
51653676(c.186-710T>C),
51653701(c.186-685C>T),
51653711(c.186-675G>A),
51653902(c.186-484G>A),
51654050(c.186-336A>C),
51654256(c.186-130G>A),
51654894(c.436-205A>G),
51654916(c.436-183G>A),
51655076(c.436-23T>C),
51655325(c.577+85G>T),
51655341(c.577+101C>T),
51655439(c.577+199A>G),
51655622(c.577+382C>T),
51655787(c.577+547T>C),
51655939(c.577+699C>T),
51656049(c.577+809A>C),
51656194(c.578-687G>A),
51656442(c.578-439G>C),
51656768(c.578-113G>A),
51657118(c.807+8G>A),
51657313(c.807+203G>T),
51657321(c.807+211C>A),
51658142(c.807+1032A>C),
51658205(c.807+1095C>T),
51659150(c.807+2040A>G),
51659159(c.807+2049C>T),
51660868(c.808-1753T>A),
51661816(c.808-805C>T),
51663225(c.886+526G>T),
51663281(c.886+582C>A),
51663925(c.886+1226C>T),
51663968(c.886+1269T>C),
51664095(c.887-1177A>T),
51664145(c.887-1127G>T),
51664149(c.887-1123C>T),
51664331(c.887-941T>C),
51664343(c.887-929A>G),
51664355(c.887-917A>G),
51664385(c.887-887T>A),
51664996(c.887-276A>G),
51665122(c.887-150G>T),
-
+1kb
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
51651930 (c.36+112_36+113delTA),
51652418 (c.37-177_37-175delTTT),
51653576 (c.186-809delC),
51653851 (c.186-534_186-533delAA),
51653940 (c.186-445_186-444delTG),
51658764 (c.807+1657_807+1659delCCT),
51660960 (c.808-1660_808-1652delGTTGCTGGG),
51661919 (c.808-689_808-688delTT),
51662296 (c.808-324_808-323delTC),
51662319 (c.808-301_808-300delCT),
51664165 (c.887-1106_887-1098delACAGTCAGT),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 4 |
|---|
| non-synonymous num | 2 |
|---|
| synonymous substitutions |
51652690 (p.Glu40Glu),
51652750 (p.Ala60Ala),
51657026 (p.Pro241Pro),
51665459 (p.Val358Val),
|
|---|
| non-synonymous substitutions |
51652691 (p.Thr41Ala),
51657066 (p.Pro255Ser),
|
|---|
B6 transcript
(ENSMUST00000110044)
|
MASERPREPDGEDSIKLSADVKPFVPKFAGLNVAWSESSETRVFPGCAATYYPFVQEPPA
AEQKMYPEDMAFGAPTFPAQYVSSEIALHPFAYPTYTLESAQSVCSVPTLQYDYSQARCH
PGFRTAKPRHEHVCPPPQEAKGVFKKKPSDERRACEEQKSSSRRADNAVPCEARPARGSS
HLSSRTESSLKSDGYHKRPDRKSRILAKSASTSKPEFEFSRLDFPELQSPKNSNMPETQK
PPRWGPLGPAASNMPLLGDVGKPVADMVEGKMVKSDHTDGAVTSNATTSSPSCTQELSWT
PMGYIVRQTVSSDSAAATENVTSMINLKKTTSSADAKNVSVTSEALSSNPSYNREKRVYP
APKVCVKDPRSRMGSGCSGKNCNSALGRLIQEDCKSKAILGHIVNPCLKIKAIR*
|
|
MSMv4 transcript
|
MASERPREPDGEDSIKLSADVKPFVPKFAGLNVAWSESSEARVFPGCAATYYPFVQEPPA
AEQKMYPEDMAFGAPTFPAQYVSSEIALHPFAYPTYTLESAQSVCSVPTLQYDYSQARCH
PGFRTAKPRHEHVCPPPQEAKGVFKKKPSDERRACEEQKSSSRRADNAVPCEARPARGSS
HLSSRTESSLKSDGYHKRPDRKSRILAKSASTSKPEFEFSRLDFPELQSPKNSNMPETQK
PPRWGPLGPAASNMSLLGDVGKPVADMVEGKMVKSDHTDGAVTSNATTSSPSCTQELSWT
PMGYIVRQTVSSDSAAATENVTSMINLKKTTSSADAKNVSVTSEALSSNPSYNREKRVYP
APKVCVKDPRSRMGSGCSGKNCNSALGRLIQEDCKSKAILGHIVNPCLKIKAIR*
|
| homology | 99.52 (415 / 415) |
|---|
|
