| Reports |
|---|
| substitution |
|---|
| cSNPs | 5 |
|---|
| Insertion | 14 |
|---|
| Deletion | 15 |
|---|
| SNPs |
+1kb
39577408(c.-134C>T),
39577517(c.-243C>T),
39577565(c.-291G>T),
39577907(c.-633C>T),
39577942(c.-668T>C),
39578727(c.-1453T>G),
39578728(c.-1454C>A),
39578848(c.-1574A>G),
39579049(c.-1775A>C),
39579055(c.-1781A>G),
39579183(c.-1909A>G),
39579242(c.-1968G>A),
39579276(c.-2002C>G),
39579289(c.-2015C>T),
39579298(c.-2024G>A),
39579315(c.-2041A>C),
39579334(c.-2060C>T),
39579402(c.-2128C>T),
39579406(c.-2132C>T),
39579444(c.-2170T>C),
39579490(c.-2216T>C),
39579632(c.-2358T>C),
39579724(c.-2450A>G),
39580344(c.-3070C>A),
39580837(c.-3563A>G),
39580876(c.-3602A>G),
39580908(c.-3634T>G),
39581048(c.-3774A>G),
39581062(c.-3788A>G),
39581102(c.-3828T>C),
39581942(c.-4668C>T),
39581947(c.-4673A>G),
39582231(c.-4957C>A),
39582316(c.-5042C>T),
- 5'UTR
- CDS
- 3'UTR
- INTRON
39552660(c.1142-145T>C),
39552797(c.1142-282C>T),
39552847(c.1142-332G>T),
39552920(c.1142-405T>C),
39553046(c.1142-531G>A),
39553529(c.1142-1014A>T),
39553676(c.1142-1161C>T),
39553775(c.1142-1260G>A),
39554936(c.1141+542A>G),
39555403(c.1141+75T>C),
39556048(c.949-378T>A),
39556064(c.949-394A>G),
39556360(c.949-690A>G),
39556567(c.949-897C>A),
39557379(c.948+936C>T),
39558032(c.948+283G>T),
39558065(c.948+250C>T),
39558538(c.852-127A>G),
39558826(c.852-415G>T),
39559627(c.851+1066A>T),
39559811(c.851+882C>T),
39559851(c.851+842A>T),
39560472(c.851+221C>T),
39561036(c.769-261A>C),
39561597(c.769-822T>C),
39562044(c.769-1269C>T),
39562653(c.768+1395A>C),
39562812(c.768+1236T>G),
39562855(c.768+1193G>A),
39562958(c.768+1090A>G),
39562979(c.768+1069A>G),
39562982(c.768+1066C>T),
39562987(c.768+1061A>G),
39563195(c.768+853A>T),
39563206(c.768+842T>A),
39563439(c.768+609C>A),
39563513(c.768+535T>C),
39563817(c.768+231T>C),
39563874(c.768+174C>T),
39563889(c.768+159T>C),
39563937(c.768+111T>C),
39564026(c.768+22T>G),
39564124(c.700-8T>C),
39564131(c.700-15T>G),
39566366(c.449-1034A>T),
39566796(c.449-1464G>A),
39566938(c.449-1606T>A),
39567824(c.449-2492G>T),
39568304(c.449-2972T>G),
39568328(c.449-2996A>C),
39568367(c.449-3035C>G),
39568587(c.449-3255T>C),
39568751(c.449-3419A>T),
39569581(c.449-4249A>G),
39570056(c.449-4724G>C),
39570091(c.449-4759G>T),
39570092(c.449-4760G>C),
39570277(c.449-4945C>G),
39570667(c.449-5335T>G),
39570668(c.449-5336A>T),
39570768(c.449-5436T>C),
39570822(c.449-5490C>T),
39571428(c.448+5399G>A),
39572270(c.448+4557G>C),
39572395(c.448+4432G>A),
39572587(c.448+4240A>G),
39572804(c.448+4023C>T),
39572879(c.448+3948T>C),
39572889(c.448+3938A>G),
39573080(c.448+3747G>T),
39573210(c.448+3617T>C),
39574077(c.448+2750G>T),
39575356(c.448+1471G>A),
39575488(c.448+1339C>T),
39575753(c.448+1074T>C),
39576065(c.448+762T>A),
39576497(c.448+330T>C),
39576564(c.448+263A>G),
-
-1kb
39546720(c.*5752C>T),
39546820(c.*5652A>C),
39547427(c.*5045G>A),
39547462(c.*5010C>T),
39547471(c.*5001C>T),
39547499(c.*4973C>T),
39548284(c.*4188C>T),
39548529(c.*3943T>C),
39548627(c.*3845T>G),
39549401(c.*3071G>T),
39549775(c.*2697G>A),
39549908(c.*2564T>C),
39550018(c.*2454C>T),
39550021(c.*2451C>T),
39550646(c.*1826G>A),
39550706(c.*1766G>A),
39550769(c.*1703C>T),
39550775(c.*1697C>G),
39550844(c.*1628C>A),
39550983(c.*1489C>T),
39551161(c.*1311G>T),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
39553640 (c.1142-1129_1142-1126dupCATA),
39559383 (c.852-973dupT),
39559634 (c.851+1057_851+1058dupGG),
39559913 (c.851+779_851+780insT),
39564478 (c.700-364_700-363dupCA),
39567232 (c.449-1902_449-1901dupTT),
39570353 (c.449-5030_449-5022dupCACACACAC),
39571162 (c.448+5664dupT),
39571478 (c.448+5348dupG),
39576342 (c.448+484_448+485insTTT),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 4 |
|---|
| non-synonymous num | 1 |
|---|
| synonymous substitutions |
39564087 (p.Ile243Ile),
39565138 (p.Leu215Leu),
39576984 (p.Pro97Pro),
39577221 (p.Ala18Ala),
|
|---|
| non-synonymous substitutions |
39577080 (p.Glu65Asp),
|
|---|
B6 transcript
(ENSMUST00000062525)
|
MAARRRPAAGVGARDALAVLALALCTPGVGGGALEWYSAMVSIEYVDPQSNLTVWSVSES
GRFGESSLREERQGLVGVPRAPAPAEGCAPDTRFVAPGALGNAPWVALVARGGCTFKDKV
LAAARRNASAVVVYNLESNGNATEPMSHAGTGNIVVIMISYPKGREIFDLVQKGIPVKMR
IEIGTRHMQEFISGQSVVFVAIAFITMMIISLAWLIFYYIQRFLYTGSQFGSQNHRKETK
KVIGQLPLHTVKHGEKGIDVDAENCAVCIENFKVKDVIRILPCKHIFHRICIDPWLLDHR
TCPMCKLDVIKALGYWGDPEDTQELPTPEAAPGRVSVGNLSVTSQDEERSESNLPSSSSS
ESGPHRPCLKEDAGEDTALLGAGRSEPQHGGSIC*
|
|
MSMv4 transcript
|
MAARRRPAAGVGARDALAVLALALCTPGVGGGALEWYSAMVSIEYVDPQSNLTVWSVSES
GRFGDSSLREERQGLVGVPRAPAPAEGCAPDTRFVAPGALGNAPWVALVARGGCTFKDKV
LAAARRNASAVVVYNLESNGNATEPMSHAGTGNIVVIMISYPKGREIFDLVQKGIPVKMR
IEIGTRHMQEFISGQSVVFVAIAFITMMIISLAWLIFYYIQRFLYTGSQFGSQNHRKETK
KVIGQLPLHTVKHGEKGIDVDAENCAVCIENFKVKDVIRILPCKHIFHRICIDPWLLDHR
TCPMCKLDVIKALGYWGDPEDTQELPTPEAAPGRVSVGNLSVTSQDEERSESNLPSSSSS
ESGPHRPCLKEDAGEDTALLGAGRSEPQHGGSIC*
|
| homology | 99.75 (395 / 395) |
|---|
|
