| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 30 |
| Deletion | 30 |
| SNPs |
+1kb
33814655(c.-297G>A),
33815024(c.-666A>T),
33815048(c.-690A>C),
33815293(c.-935T>C),
33815338(c.-980T>C),
33815419(c.-1061A>G),
33816558(c.-2200G>T),
33816605(c.-2247C>T),
33816654(c.-2296A>G),
33816677(c.-2319A>T),
33816712(c.-2354C>T),
33816718(c.-2360C>T),
33816795(c.-2437T>C),
33816808(c.-2450A>G),
33816814(c.-2456G>A),
33816835(c.-2477C>T),
33816836(c.-2478C>T),
33816866(c.-2508G>A),
33816923(c.-2565T>C),
33816925(c.-2567A>T),
33816977(c.-2619G>A),
33817310(c.-2952A>G),
33817747(c.-3389G>A),
33819562(c.-5204C>A),
5'UTR
CDS
3'UTR
33792379(c.*9741G>A),
33792489(c.*9631T>C),
33792551(c.*9569C>T),
33792602(c.*9518T>G),
33792710(c.*9410A>G),
33792781(c.*9339C>T),
33792992(c.*9128T>C),
33793163(c.*8957A>G),
33793226(c.*8894A>G),
33793345(c.*8775A>T),
33793347(c.*8773A>G),
33793417(c.*8703T>C),
33793503(c.*8617G>A),
33793607(c.*8513G>A),
33794087(c.*8033A>G),
33794176(c.*7944C>G),
33794300(c.*7820C>G),
33794448(c.*7672C>T),
33794570(c.*7550G>T),
33794576(c.*7544G>A),
33794609(c.*7511A>G),
33794732(c.*7388A>G),
33794892(c.*7228A>G),
33794923(c.*7197T>A),
33795048(c.*7072C>T),
33795220(c.*6900C>T),
33795420(c.*6700A>C),
33795556(c.*6564A>G),
33795639(c.*6481T>C),
33795652(c.*6468T>C),
33795686(c.*6434T>C),
33795841(c.*6279C>G),
33796184(c.*5936C>T),
33796334(c.*5786T>C),
33796340(c.*5780C>T),
33796343(c.*5777G>A),
33796352(c.*5768G>A),
33796379(c.*5741G>A),
33796380(c.*5740T>C),
33797255(c.*4865T>C),
33797284(c.*4836G>A),
33797334(c.*4786C>G),
33797496(c.*4624A>G),
33797541(c.*4579A>G),
33797796(c.*4324C>T),
33798515(c.*3605G>A),
33798702(c.*3418T>A),
33799179(c.*2941G>A),
33799331(c.*2789C>A),
33799607(c.*2513T>G),
33799662(c.*2458T>C),
33800191(c.*1929T>C),
33800711(c.*1409G>A),
33801496(c.*624T>C),
33801519(c.*601C>T),
33801709(c.*411G>T),
33802046(c.*74G>T),
INTRON
33803864(c.187-251C>G),
33803998(c.187-385C>A),
33804266(c.187-653T>G),
33804267(c.187-654C>T),
33804337(c.187-724C>T),
33804501(c.186+838G>A),
33804535(c.186+804A>G),
33804537(c.186+802G>A),
33804538(c.186+801T>C),
33804621(c.186+718T>C),
33804872(c.186+467G>A),
33804906(c.186+433T>C),
33805001(c.186+338G>T),
33805080(c.186+259C>T),
33805081(c.186+258C>T),
33805115(c.186+224C>T),
33805305(c.186+34T>G),
33805311(c.186+28T>C),
33805318(c.186+21T>C),
33805507(c.106-88C>G),
33805735(c.106-316G>A),
33806208(c.106-789G>T),
33806242(c.106-823G>A),
33806516(c.106-1097T>G),
33806849(c.106-1430G>A),
33807188(c.106-1769T>A),
33807330(c.106-1911C>T),
33807525(c.106-2106C>T),
33807593(c.106-2174C>T),
33807658(c.106-2239A>G),
33807709(c.106-2290A>G),
33807872(c.106-2453A>G),
33807924(c.106-2505C>T),
33807929(c.106-2510C>T),
33808176(c.106-2757A>G),
33808277(c.106-2858C>T),
33808394(c.106-2975G>A),
33808451(c.106-3032T>C),
33808599(c.106-3180C>T),
33808787(c.106-3368C>T),
33808816(c.106-3397A>T),
33808948(c.106-3529A>G),
33808985(c.106-3566C>T),
33809037(c.106-3618C>T),
33809076(c.106-3657G>A),
33809104(c.106-3685A>G),
33809109(c.106-3690G>A),
33809143(c.106-3724T>G),
33809200(c.106-3781G>C),
33809321(c.106-3902A>G),
33809340(c.106-3921C>T),
33809413(c.106-3994G>T),
33809482(c.106-4063A>G),
33809545(c.106-4126T>C),
33809568(c.106-4149G>A),
33809887(c.105+3840G>A),
33809972(c.105+3755A>T),
33810039(c.105+3688C>T),
33810299(c.105+3428T>C),
33810400(c.105+3327G>A),
33810523(c.105+3204T>C),
33810710(c.105+3017T>C),
33810888(c.105+2839A>G),
33810920(c.105+2807C>A),
33811197(c.105+2530T>C),
33811588(c.105+2139T>G),
33811725(c.105+2002G>A),
33811895(c.105+1832A>G),
33812011(c.105+1716T>G),
33812184(c.105+1543C>T),
33812205(c.105+1522G>A),
33812356(c.105+1371C>T),
33812710(c.105+1017G>A),
33813127(c.105+600C>A),
33813490(c.105+237C>T),
33813584(c.105+143T>A),
33813915(c.22-105T>A),
33814038(c.22-228A>G),
33814121(c.21+217A>G),
33814140(c.21+198C>T),
-1kb
33787518(c.*14602A>T),
33787540(c.*14580T>C),
33787843(c.*14277T>C),
33787847(c.*14273G>A),
33787866(c.*14254A>G),
33787889(c.*14231A>G),
33788059(c.*14061A>G),
33788074(c.*14046G>C),
33788108(c.*14012A>C),
33788176(c.*13944C>A),
33788278(c.*13842G>C),
33788282(c.*13838C>T),
33788295(c.*13825G>T),
33788306(c.*13814C>T),
33788308(c.*13812T>C),
33788388(c.*13732G>T),
33788397(c.*13723A>G),
33788430(c.*13690C>T),
33788467(c.*13653C>A),
33788487(c.*13633T>C),
33788664(c.*13456G>A),
33788730(c.*13390C>T),
33788867(c.*13253A>G),
33789100(c.*13020G>C),
33789174(c.*12946C>T),
33789201(c.*12919C>G),
33789205(c.*12915C>T),
33790254(c.*11866C>T),
33790533(c.*11587C>T),
33791023(c.*11097C>G),
33791339(c.*10781C>A),
33791586(c.*10534T>C),
33791891(c.*10229A>C),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
33805293 (c.186+45_186+46insAA),
33806171 (c.106-753dupT),
33806362 (c.106-944_106-943insG),
33806498 (c.106-1080dupT),
33806935 (c.106-1517_106-1516insAG),
33806938 (c.106-1520_106-1519insAA),
33807303 (c.106-1885dupG),
33807609 (c.106-2191_106-2190insAT),
33809302 (c.106-3884_106-3883insGT),
33809843 (c.105+3883_105+3884insG),
33810270 (c.105+3456_105+3457insT),
33810798 (c.105+2925_105+2928dupACAA),
33810939 (c.105+2787_105+2788insATAT),
33811375 (c.105+2351_105+2352insA),
33811424 (c.105+2302_105+2303insG),
33811552 (c.105+2174_105+2175insAT),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
33792217 (c.*9900_*9902delATT),
33794324 (c.*7793_*7795delTTT),
33795158 (c.*6961delA),
33796490 (c.*5627_*5629delGTT),
33796671 (c.*5447_*5448delAT),
33796926 (c.*5192_*5193delTC),
33798631 (c.*3488delT),
33799999 (c.*2119_*2120delTT),
33800859 (c.*1259_*1260delCT),
33801349 (c.*768_*770delTGT),
INTRON
33804267 (c.187-656_187-655delAT),
33805014 (c.186+321_186+324delTTTT),
33805745 (c.106-327delT),
33807018 (c.106-1601_106-1600delTT),
33807756 (c.106-2339_106-2338delTT),
33808612 (c.106-3195_106-3194delTG),
33808623 (c.106-3206_106-3205delGG),
33808996 (c.106-3580_106-3578delTGT),
33809398 (c.106-3983_106-3980delTCTT),
33809859 (c.105+3863_105+3867delGTGGT),
33810326 (c.105+3392_105+3400delCAACAAACA),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 0 |
| synonymous substitutions |
33803254 (p.Leu182Leu),
33803367 (p.Leu145Leu),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000044455)
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDRMPESKVPSSENHRPEMCSSCSVPLPIGDSSSSSGSCANSPQRIVSQPSSVENPLENQ
KNDHNNSDVSVSEKETLKPQSNQTLPSASLLGSQESLAFSEVKEDLPGTMSSASQSGQDA
ILYLQTQVAEMSRVIRDLQSRSCFRFHHSRPSESSSVPWDISSSKEDSLSTVEEESDCKS
PSADDKGQPPDPMQSSFTGLLKRMEQRGVIKRVTFQSEAETCEGKPDWMTSKKRLVPPLH
PLLRIATTEVFKDPADCHPSSFMGHRVYPVAKDTSPFQPNPPAEGPIIDVLEHSKRGNTA
SPLDSTSKEMEVMGCRFYHAASIAARAASYMAYMTQYQRKLWEDMEDLVHDPEFDRGKAR
CIISDGMDAGLWQLCTTRDIMDSVVRVMAMAVDYRRQAWLRLTSLTKKTQEKILHLPFDG
TSLFGQDVNAIVAEDNSIKENEYKDHNKYYTQHRYFYSHDQKAHYHNRGYSKGDWYKPRN
HPYRYRKKGDSPERHGYKN*
|
|
MSMv4 transcript
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDRMPESKVPSSENHRPEMCSSCSVPLPIGDSSSSSGSCANSPQRIVSQPSSVENPLENQ
KNDHNNSDVSVSEKETLKPQSNQTLPSASLLGSQESLAFSEVKEDLPGTMSSASQSGQDA
ILYLQTQVAEMSRVIRDLQSRSCFRFHHSRPSESSSVPWDISSSKEDSLSTVEEESDCKS
PSADDKGQPPDPMQSSFTGLLKRMEQRGVIKRVTFQSEAETCEGKPDWMTSKKRLVPPLH
PLLRIATTEVFKDPADCHPSSFMGHRVYPVAKDTSPFQPNPPAEGPIIDVLEHSKRGNTA
SPLDSTSKEMEVMGCRFYHAASIAARAASYMAYMTQYQRKLWEDMEDLVHDPEFDRGKAR
CIISDGMDAGLWQLCTTRDIMDSVVRVMAMAVDYRRQAWLRLTSLTKKTQEKILHLPFDG
TSLFGQDVNAIVAEDNSIKENEYKDHNKYYTQHRYFYSHDQKAHYHNRGYSKGDWYKPRN
HPYRYRKKGDSPERHGYKN*
|
| homology | 100.00 (560 / 560) |
|