Reports |
substitution |
cSNPs | 7 |
Insertion | 12 |
Deletion | 25 |
SNPs |
-1kb
95327301(c.-5061C>T),
95327309(c.-5053A>G),
95327491(c.-4871G>T),
95327984(c.-4378C>T),
95328086(c.-4276A>G),
95328135(c.-4227G>A),
95328176(c.-4186A>G),
95328251(c.-4111A>G),
95328539(c.-3823A>G),
95328563(c.-3799A>G),
95328794(c.-3568A>G),
95328836(c.-3526G>A),
95328995(c.-3367A>G),
95329010(c.-3352A>G),
95329052(c.-3310C>T),
95329337(c.-3025C>G),
95329472(c.-2890G>A),
95329517(c.-2845C>T),
95329667(c.-2695T>A),
95330008(c.-2354T>C),
95330053(c.-2309C>T),
95331346(c.-1016T>C),
95331395(c.-967G>A),
95331465(c.-897G>A),
95331998(c.-364T>G),
5'UTR
CDS
3'UTR
INTRON
95332593(c.104+128A>C),
95333355(c.105-13T>G),
95333615(c.271+81C>G),
95333639(c.271+105T>C),
95333640(c.271+106G>A),
95333716(c.271+182G>A),
95333986(c.271+452C>T),
95335688(c.271+2154C>T),
95335719(c.271+2185A>G),
95336756(c.272-1878T>C),
95336781(c.272-1853G>A),
95337083(c.272-1551A>G),
95337274(c.272-1360C>T),
95337418(c.272-1216T>C),
95337546(c.272-1088A>G),
95337553(c.272-1081C>A),
95337643(c.272-991A>C),
95337672(c.272-962A>G),
95337718(c.272-916T>C),
95338027(c.272-607G>A),
95338249(c.272-385T>A),
95338355(c.272-279A>G),
95338362(c.272-272G>A),
95338370(c.272-264A>G),
95338558(c.272-76C>T),
95338604(c.272-30A>G),
95338607(c.272-27C>G),
95338623(c.272-11T>C),
95338834(c.455+17T>C),
95338882(c.455+65C>T),
95338961(c.455+144T>C),
95338965(c.455+148T>C),
95338994(c.455+177G>C),
95339015(c.455+198T>C),
95339049(c.455+232C>T),
95339137(c.455+320G>A),
95339161(c.455+344C>T),
95339192(c.455+375C>T),
95339426(c.455+609C>G),
95339525(c.455+708G>A),
95339567(c.455+750A>C),
95339578(c.455+761A>G),
95339585(c.455+768C>T),
95339590(c.455+773G>A),
95339686(c.455+869C>T),
95339949(c.455+1132C>T),
95340115(c.455+1298C>T),
95340354(c.455+1537C>G),
95340368(c.455+1551A>G),
95340394(c.455+1577A>G),
95340460(c.455+1643G>A),
95340469(c.455+1652G>A),
95340508(c.455+1691G>A),
95340628(c.455+1811A>G),
95340790(c.455+1973G>T),
95340841(c.455+2024G>C),
95340863(c.455+2046C>T),
95340884(c.455+2067T>C),
95340979(c.456-2143C>T),
95341055(c.456-2067T>G),
95341057(c.456-2065C>T),
95341264(c.456-1858G>A),
95341339(c.456-1783A>C),
95341481(c.456-1641A>G),
95341503(c.456-1619G>A),
95341525(c.456-1597T>A),
95341549(c.456-1573C>T),
95341570(c.456-1552A>G),
95341608(c.456-1514A>G),
95341610(c.456-1512T>A),
95341628(c.456-1494G>A),
95341662(c.456-1460T>C),
95341727(c.456-1395C>T),
95341833(c.456-1289G>T),
95341846(c.456-1276A>C),
95341861(c.456-1261A>C),
95341883(c.456-1239C>T),
95341956(c.456-1166G>A),
95341958(c.456-1164T>C),
95342098(c.456-1024T>C),
95342107(c.456-1015C>A),
95342231(c.456-891G>A),
95342275(c.456-847C>T),
95342280(c.456-842T>G),
95342282(c.456-840T>C),
95342283(c.456-839A>G),
95342387(c.456-735G>A),
95342421(c.456-701T>G),
95342495(c.456-627G>C),
95342555(c.456-567T>C),
95342688(c.456-434G>T),
95342691(c.456-431A>G),
95342711(c.456-411C>A),
95342781(c.456-341A>G),
95343195(c.509+20C>T),
95343300(c.509+125T>C),
95343339(c.509+164T>C),
95343352(c.509+177G>A),
95343362(c.509+187C>T),
95343368(c.509+193T>C),
95343441(c.509+266T>C),
95343507(c.509+332G>C),
95343560(c.509+385T>C),
95343575(c.510-382T>G),
95343579(c.510-378C>G),
95343641(c.510-316A>G),
95343648(c.510-309G>A),
95343714(c.510-243G>A),
95344092(c.615+30A>G),
95344101(c.615+39A>T),
95344415(c.615+353C>T),
95345063(c.616-226T>C),
95345180(c.616-109T>G),
95345393(c.699+21C>A),
95345836(c.699+464T>A),
95345906(c.699+534A>G),
95346143(c.700-384T>C),
95346287(c.700-240G>A),
95346381(c.700-146A>G),
+1kb
95347693(c.*1062C>A),
95347728(c.*1097G>T),
95347836(c.*1205G>A),
95347866(c.*1235A>G),
95348398(c.*1767C>T),
95348614(c.*1983C>A),
95349100(c.*2469T>C),
95349553(c.*2922C>T),
95349601(c.*2970C>T),
95349991(c.*3360T>A),
95350014(c.*3383T>C),
95350031(c.*3400C>A),
95350039(c.*3408C>T),
95350054(c.*3423C>T),
95350160(c.*3529T>C),
95350171(c.*3540C>T),
95350331(c.*3700G>A),
95350796(c.*4165A>T),
95350990(c.*4359G>A),
95351165(c.*4534A>C),
95351257(c.*4626G>A),
95351276(c.*4645G>A),
95351456(c.*4825C>T),
95351502(c.*4871G>A),
95351539(c.*4908T>G),
95351615(c.*4984T>A),
95352143(c.*5512G>C),
95352189(c.*5558C>A),
95352326(c.*5695C>T),
95352413(c.*5782G>A),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
95332710 (c.104+259_104+263delTTTTT),
95334559 (c.271+1037delC),
95335301 (c.271+1773_271+1781delGGGGGGGGG),
95337718 (c.272-915delG),
95338011 (c.272-614delT),
95338530 (c.272-103delA),
95339327 (c.455+511_455+512delCC),
95339343 (c.455+527_455+534delATTTGTTT),
95339838 (c.455+1022_455+1028delTCCATCC),
95341207 (c.456-1913delG),
95341404 (c.456-1717delC),
95341895 (c.456-1226_456-1224delGGT),
95341911 (c.456-1210_456-1209delTA),
95345228 (c.616-55delG),
+1kb
95349216 (c.*2586_*2588delGAG),
95350101 (c.*3471delA),
95350108 (c.*3478delA),
95350316 (c.*3686delT),
95350480 (c.*3850_*3851delGT),
95350525 (c.*3895_*3896delGG),
95350625 (c.*3995_*3996delAA),
95350759 (c.*4129delT),
95350981 (c.*4351_*4352delAA),
95351548 (c.*4918delA),
95351714 (c.*5084_*5088delCTCTG),
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 5 |
non-synonymous num | 2 |
synonymous substitutions |
95338701 (p.Pro113Pro),
95338702 (p.Arg114Arg),
95343966 (p.Ile173Ile),
95345324 (p.Val217Val),
95346607 (p.Lys260Lys),
|
non-synonymous substitutions |
95333400 (p.Pro46Leu),
95338798 (p.Arg146Cys),
|
B6 transcript
(ENSMUST00000034245)
|
MSSAPLVGYSSSGSEDEAEAVAAGRSKPGTGFHRCGQNPVPSEKLPVPDSVLSMFPSTEE
GPEDDSAKHGGRIRTFPHERGNWATHIYIPYEAKEDFRDLLDALLPRAQMFVPRLVLMEE
FHVSLSQSVVLRHHWILPFVQVLKDRMASFQRFFFTANRVKIYTNQEKTRTFIGLEVSSG
HAQFLDLVSEVDRAMKEFDLTTFYQDPSFHVSLAWCVGDASLQLEGQCLQELQEIVDEFE
DSEMLLRVLANQVRCKSGNKFFSMPLK*
|
MSMv4 transcript
|
MSSAPLVGYSSSGSEDEAEAVAAGRSKPGTGFHRCGQNPVPSEKLLVPDSVLSMFPSTEE
GPEDDSAKHGGRIRTFPHERGNWATHIYIPYEAKEDFRDLLDALLPRAQMFVPRLVLMEE
FHVSLSQSVVLRHHWILPFVQVLKDCMASFQRFFFTANRVKIYTNQEKTRTFIGLEVSSG
HAQFLDLVSEVDRAMKEFDLTTFYQDPSFHVSLAWCVGDASLQLEGQCLQELQEIVDEFE
DSEMLLRVLANQVRCKSGNKFFSMPLK*
|
homology | 99.25 (268 / 268) |
|