| Reports |
| substitution |
| cSNPs | 8 |
| Insertion | 7 |
| Deletion | 20 |
| SNPs |
-1kb
55709908(c.-4870T>C),
55710169(c.-4609C>T),
55710250(c.-4528T>C),
55710297(c.-4481T>C),
55710326(c.-4452T>C),
55710334(c.-4444A>G),
55710419(c.-4359G>A),
55710612(c.-4166G>A),
55710634(c.-4144A>G),
55710737(c.-4041T>G),
55711018(c.-3760T>C),
55711060(c.-3718T>C),
55711142(c.-3636A>G),
55711342(c.-3436G>A),
55711460(c.-3318T>G),
55711505(c.-3273C>T),
55711563(c.-3215T>A),
55711607(c.-3171C>A),
55711775(c.-3003C>T),
55711844(c.-2934T>G),
55711870(c.-2908C>T),
55711890(c.-2888C>T),
55712082(c.-2696T>C),
55712110(c.-2668T>C),
55712145(c.-2633G>A),
55712162(c.-2616A>T),
55712427(c.-2351T>C),
55712451(c.-2327G>A),
55712452(c.-2326G>A),
55712462(c.-2316G>A),
55712511(c.-2267C>T),
55712542(c.-2236A>T),
55712547(c.-2231C>G),
55712600(c.-2178T>C),
55712632(c.-2146A>T),
55712634(c.-2144T>A),
55712635(c.-2143A>T),
55712840(c.-1938T>C),
55712898(c.-1880C>T),
55712907(c.-1871C>T),
55713014(c.-1764G>A),
55713026(c.-1752A>T),
55713185(c.-1593G>A),
55713236(c.-1542T>G),
55713247(c.-1531C>T),
55713283(c.-1495A>G),
55713324(c.-1454C>G),
55713539(c.-1239T>C),
55713606(c.-1172A>T),
55713622(c.-1156T>C),
55713856(c.-922A>G),
55714278(c.-500A>T),
5'UTR
CDS
3'UTR
INTRON
55714983(c.67+139G>A),
55715025(c.67+181A>T),
55715026(c.67+182A>C),
55715116(c.67+272C>G),
55715132(c.67+288T>A),
55715172(c.67+328T>C),
55715209(c.67+365A>G),
55715451(c.67+607A>T),
55715540(c.67+696A>G),
55715636(c.67+792A>G),
55715668(c.67+824C>G),
55715859(c.67+1015A>G),
55715889(c.67+1045T>A),
55716454(c.68-1338C>T),
55716458(c.68-1334G>A),
55716778(c.68-1014T>A),
55717196(c.68-596G>A),
55717606(c.68-186G>A),
55718843(c.543+576G>C),
55719251(c.543+984G>A),
55719253(c.543+986T>C),
55719639(c.543+1372C>T),
55719653(c.543+1386G>A),
55720010(c.544-1569C>T),
55720047(c.544-1532T>C),
55720215(c.544-1364T>C),
55720289(c.544-1290G>A),
55720608(c.544-971T>C),
55720782(c.544-797T>C),
55720930(c.544-649G>A),
55721008(c.544-571A>C),
55721016(c.544-563T>C),
55721033(c.544-546T>C),
55721180(c.544-399C>T),
55721216(c.544-363G>A),
55721329(c.544-250T>C),
55721343(c.544-236C>T),
55721381(c.544-198G>A),
55721450(c.544-129G>T),
55721486(c.544-93G>C),
55721772(c.707+30G>C),
55721835(c.707+93A>G),
55721917(c.707+175T>C),
55721975(c.707+233G>A),
55723149(c.708-1359T>G),
55723159(c.708-1349G>C),
55723305(c.708-1203T>C),
55723473(c.708-1035G>A),
55723515(c.708-993G>A),
55723560(c.708-948G>A),
55723603(c.708-905C>T),
55723685(c.708-823G>A),
55723795(c.708-713T>C),
55723822(c.708-686T>C),
55723861(c.708-647G>A),
55723882(c.708-626A>C),
55723927(c.708-581G>A),
55723965(c.708-543C>G),
55723974(c.708-534T>C),
55724003(c.708-505A>G),
55724009(c.708-499A>G),
55724069(c.708-439C>T),
55724089(c.708-419A>G),
55724342(c.708-166G>A),
55724391(c.708-117T>C),
55724447(c.708-61A>C),
55724464(c.708-44T>A),
55724492(c.708-16C>T),
55724643(c.838+5G>A),
55724658(c.838+20G>A),
55724754(c.838+116T>C),
55724755(c.838+117G>A),
55724778(c.838+140C>T),
55724788(c.838+150C>T),
55725154(c.839-513A>G),
55725290(c.839-377G>A),
+1kb
55726374(c.*511A>T),
55726596(c.*733C>T),
55726981(c.*1118A>T),
55727148(c.*1285A>G),
55727190(c.*1327C>T),
55727207(c.*1344T>C),
55727240(c.*1377A>T),
55727286(c.*1423A>C),
55727452(c.*1589C>G),
55727522(c.*1659G>T),
55727575(c.*1712G>T),
55727597(c.*1734C>T),
55727691(c.*1828T>A),
55727698(c.*1835C>G),
55727772(c.*1909A>G),
55727879(c.*2016G>A),
55727897(c.*2034T>C),
55728057(c.*2194C>T),
55728064(c.*2201A>G),
55728713(c.*2850A>T),
55728808(c.*2945T>C),
55728856(c.*2993C>G),
55728857(c.*2994C>T),
55728885(c.*3022T>C),
55729033(c.*3170G>T),
55729525(c.*3662G>C),
55729574(c.*3711T>A),
55729678(c.*3815C>T),
55729898(c.*4035C>T),
55729971(c.*4108A>G),
55730064(c.*4201A>G),
55730167(c.*4304C>T),
55730263(c.*4400A>G),
55730317(c.*4454A>C),
55730337(c.*4474T>G),
55730383(c.*4520G>T),
55730554(c.*4691G>A),
55730557(c.*4694C>T),
55730734(c.*4871C>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 | 7 |
| non-synonymous num | 1 |
| synonymous substitutions |
55718192 (p.Ser156Ser),
55721648 (p.Arg205Arg),
55724577 (p.Ala259Ala),
55724601 (p.Thr267Thr),
55724637 (p.Thr279Thr),
55725707 (p.Asp293Asp),
55725845 (p.Glu339Glu),
|
| non-synonymous substitutions |
55718091 (p.Gly123Ser),
|
B6 transcript
(ENSMUST00000021959)
|
MQLLCWWQVLLWVLGLPAHGLEVAEDSGHPWREERPVPALQVGAVYLHEEEVAQDHRDQA
RAAEPMEASLGPRGDPMVVLSVVPGAAEDQRSPEAHDGTCSAQGEEDPSCGRENLFGLQG
AGGFQDREEEYYAEPGVTEAEPVATEDANSTDSLKSPKVNCEERNVTGLENFTLKILNMS
QDLMDFLNPNGSDCTLVLFYTPWCRFSASLAPHFNSLPRAFPTLGFLALDASQHSSLSTR
FGTVAVPNILLFQGAKPMARFNHTDRTLETLKIFIFNQTGIEAKKNVVVTQADQMGPLPS
TLIKTVDWLLVFSLFFLISFIMYATIRTESIRWLIPGQEQEHAE*
|
|
MSMv4 transcript
|
MQLLCWWQVLLWVLGLPAHGLEVAEDSGHPWREERPVPALQVGAVYLHEEEVAQDHRDQA
RAAEPMEASLGPRGDPMVVLSVVPGAAEDQRSPEAHDGTCSAQGEEDPSCGRENLFGLQG
AGSFQDREEEYYAEPGVTEAEPVATEDANSTDSLKSPKVNCEERNVTGLENFTLKILNMS
QDLMDFLNPNGSDCTLVLFYTPWCRFSASLAPHFNSLPRAFPTLGFLALDASQHSSLSTR
FGTVAVPNILLFQGAKPMARFNHTDRTLETLKIFIFNQTGIEAKKNVVVTQADQMGPLPS
TLIKTVDWLLVFSLFFLISFIMYATIRTESIRWLIPGQEQEHAE*
|
| homology | 99.71 (345 / 345) |
|