| Reports |
|---|
| substitution |
|---|
| cSNPs | 9 |
|---|
| Insertion | 32 |
|---|
| Deletion | 41 |
|---|
| SNPs |
-1kb
15800691(c.-4987A>G),
15801600(c.-4078C>G),
15801806(c.-3872A>G),
15801892(c.-3786T>G),
15801895(c.-3783T>C),
15801899(c.-3779A>G),
15801998(c.-3680A>G),
15802010(c.-3668T>C),
15802135(c.-3543A>G),
15802163(c.-3515A>T),
15802181(c.-3497G>C),
15802207(c.-3471C>T),
15802277(c.-3401A>G),
15802278(c.-3400A>C),
15802338(c.-3340A>G),
15802351(c.-3327T>C),
15802356(c.-3322C>T),
15802487(c.-3191A>T),
15802502(c.-3176G>C),
15802536(c.-3142T>C),
15802685(c.-2993A>G),
15802715(c.-2963A>T),
15802761(c.-2917A>G),
15802899(c.-2779G>T),
15802918(c.-2760G>A),
15802979(c.-2699G>A),
15803001(c.-2677G>C),
15803025(c.-2653C>T),
15803041(c.-2637G>A),
15803083(c.-2595T>C),
15803128(c.-2550A>C),
15803158(c.-2520A>G),
15803275(c.-2403A>C),
15803464(c.-2214A>G),
15803467(c.-2211T>C),
15803580(c.-2098G>T),
15803663(c.-2015C>T),
15803667(c.-2011G>A),
15803702(c.-1976T>G),
15803752(c.-1926C>T),
15803782(c.-1896C>T),
15803874(c.-1804A>G),
15805487(c.-191T>C),
15805595(c.-83T>C),
15805620(c.-58C>T),
15805657(c.-21G>T),
15805658(c.-20G>A),
- 5'UTR
- CDS
- 3'UTR
- INTRON
15805971(c.280+14C>G),
15806163(c.280+206A>G),
15806166(c.280+209G>C),
15806185(c.280+228T>C),
15806230(c.280+273C>G),
15806365(c.280+408G>A),
15806406(c.280+449A>C),
15806539(c.280+582A>G),
15806603(c.280+646A>G),
15806696(c.280+739T>C),
15806726(c.280+769T>C),
15806800(c.281-841T>G),
15807070(c.281-571A>T),
15807204(c.281-437C>T),
15807236(c.281-405C>T),
15807256(c.281-385G>A),
15807531(c.281-110A>G),
15808099(c.376+363A>T),
15808146(c.376+410T>C),
15808415(c.376+679T>G),
15808423(c.376+687T>C),
15808548(c.376+812C>G),
15808582(c.376+846A>G),
15808780(c.376+1044T>G),
15808874(c.376+1138G>A),
15808888(c.376+1152A>G),
15808927(c.376+1191T>C),
15809010(c.376+1274T>C),
15809050(c.376+1314C>G),
15809129(c.376+1393C>T),
15809196(c.376+1460T>G),
15809205(c.376+1469G>T),
15809240(c.376+1504T>C),
15809306(c.376+1570G>C),
15809566(c.376+1830G>A),
15809641(c.376+1905A>T),
15809665(c.376+1929A>G),
15809821(c.376+2085T>G),
15809840(c.376+2104T>C),
15809846(c.376+2110G>C),
15809998(c.376+2262A>C),
15810137(c.376+2401G>A),
15810222(c.376+2486G>A),
15810294(c.376+2558G>A),
15810322(c.376+2586A>G),
15810324(c.376+2588A>C),
15810447(c.377-2594G>A),
15810706(c.377-2335A>G),
15810948(c.377-2093C>A),
15810949(c.377-2092G>A),
15810952(c.377-2089T>C),
15810981(c.377-2060A>G),
15811003(c.377-2038C>T),
15811056(c.377-1985C>A),
15811071(c.377-1970G>C),
15811130(c.377-1911A>T),
15811296(c.377-1745C>T),
15811310(c.377-1731T>G),
15811410(c.377-1631A>G),
15811652(c.377-1389A>G),
15811722(c.377-1319G>A),
15811802(c.377-1239C>T),
15811923(c.377-1118A>G),
15811982(c.377-1059T>C),
15811999(c.377-1042T>G),
15812246(c.377-795A>G),
15812258(c.377-783G>A),
15812422(c.377-619G>A),
15812427(c.377-614C>T),
15812588(c.377-453G>A),
15812618(c.377-423C>T),
15812941(c.377-100G>A),
15813036(c.377-5A>G),
15813334(c.498+172A>T),
15813487(c.498+325C>T),
15813592(c.498+430G>C),
15813601(c.498+439C>T),
15813667(c.498+505T>C),
15813668(c.498+506C>T),
15813795(c.498+633A>G),
15813830(c.498+668A>G),
15813861(c.498+699C>T),
15813952(c.498+790T>C),
15814209(c.498+1047G>T),
15814689(c.498+1527G>T),
15814703(c.498+1541G>A),
15814711(c.498+1549T>C),
15814815(c.498+1653T>A),
15814976(c.498+1814C>A),
15815037(c.498+1875G>C),
15815321(c.498+2159A>G),
15815331(c.498+2169C>T),
15815564(c.498+2402C>G),
15815876(c.498+2714C>T),
15815940(c.498+2778G>A),
15816305(c.499-2629T>C),
15816358(c.499-2576T>C),
15816825(c.499-2109A>G),
15817031(c.499-1903T>A),
15817063(c.499-1871G>T),
15817102(c.499-1832T>A),
15817131(c.499-1803A>G),
15817379(c.499-1555C>T),
15817404(c.499-1530G>T),
15817694(c.499-1240G>A),
15818186(c.499-748C>T),
15818448(c.499-486T>G),
15818541(c.499-393T>A),
15818672(c.499-262G>T),
15818809(c.499-125T>G),
15818895(c.499-39A>G),
15819422(c.649-229A>G),
15819425(c.649-226A>G),
15819447(c.649-204A>G),
15820181(c.761+418A>G),
15820213(c.761+450A>G),
15820353(c.761+590C>T),
15820616(c.761+853C>A),
15820671(c.761+908C>T),
15820677(c.761+914G>A),
15821077(c.761+1314A>T),
15821101(c.761+1338C>T),
15821239(c.761+1476G>C),
15821351(c.761+1588T>C),
15821360(c.761+1597T>C),
15821396(c.761+1633T>C),
15821538(c.761+1775G>A),
15821615(c.761+1852A>G),
15821716(c.761+1953T>C),
15821955(c.761+2192G>T),
15822169(c.761+2406T>A),
15822200(c.761+2437G>A),
15822236(c.761+2473A>G),
15822465(c.761+2702A>G),
15823154(c.761+3391C>T),
15823203(c.761+3440A>G),
15823946(c.761+4183T>A),
15823972(c.761+4209A>C),
15824007(c.761+4244C>A),
15824034(c.761+4271A>G),
15824310(c.761+4547C>G),
15824321(c.761+4558C>A),
15824342(c.761+4579T>C),
15824348(c.761+4585C>G),
15824717(c.761+4954A>G),
15824745(c.761+4982A>T),
15825094(c.761+5331C>G),
15825468(c.761+5705C>T),
15826317(c.762-5190A>G),
15826598(c.762-4909G>A),
15827197(c.762-4310A>C),
15827324(c.762-4183A>T),
15827457(c.762-4050G>A),
15827500(c.762-4007T>C),
15827526(c.762-3981A>G),
15827544(c.762-3963G>A),
15827594(c.762-3913G>A),
15827639(c.762-3868G>T),
15827842(c.762-3665C>G),
15828148(c.762-3359G>A),
15828169(c.762-3338G>A),
15828304(c.762-3203A>G),
15828493(c.762-3014C>T),
15828624(c.762-2883A>G),
15828835(c.762-2672C>A),
15828837(c.762-2670A>T),
15828884(c.762-2623T>C),
15829737(c.762-1770T>C),
15829880(c.762-1627A>G),
15830197(c.762-1310T>C),
15830202(c.762-1305G>A),
15830299(c.762-1208G>A),
15830379(c.762-1128C>T),
15830484(c.762-1023A>G),
15830526(c.762-981G>A),
15830811(c.762-696G>A),
15830940(c.762-567G>T),
15831015(c.762-492A>C),
15831653(c.821+87C>T),
15831806(c.821+240G>A),
15832013(c.821+447G>A),
15832044(c.821+478A>G),
15832135(c.821+569G>A),
15832171(c.821+605G>A),
15832239(c.821+673T>C),
15832312(c.821+746A>G),
15832340(c.821+774G>T),
15832484(c.822-917C>A),
15832588(c.822-813A>G),
15832704(c.822-697G>A),
15832724(c.822-677C>T),
15833157(c.822-244A>G),
15833526(c.910+37G>T),
15834780(c.910+1291T>A),
15834827(c.910+1338A>G),
15834828(c.910+1339A>T),
15834927(c.910+1438A>C),
15835118(c.910+1629T>A),
15835270(c.910+1781T>C),
15835272(c.910+1783G>C),
15835436(c.910+1947G>A),
15835472(c.910+1983G>A),
15835569(c.910+2080A>G),
15835642(c.910+2153A>G),
15835921(c.911-2261C>A),
15836076(c.911-2106T>C),
15836243(c.911-1939T>G),
15836327(c.911-1855C>T),
15836593(c.911-1589A>G),
15840798(c.1018-2123A>G),
15840861(c.1018-2060T>C),
15840862(c.1018-2059G>A),
15841312(c.1018-1609T>G),
15841791(c.1018-1130T>C),
15842229(c.1018-692T>C),
15842261(c.1018-660G>C),
15842281(c.1018-640C>G),
15842322(c.1018-599C>T),
-
+1kb
15843520(c.*438C>T),
15844213(c.*1131G>A),
15844236(c.*1154T>A),
15844320(c.*1238G>A),
15845045(c.*1963C>G),
15845064(c.*1982G>A),
15845074(c.*1992G>T),
15845118(c.*2036T>G),
15845264(c.*2182T>A),
15845507(c.*2425G>A),
15845827(c.*2745T>C),
15846061(c.*2979A>C),
15846224(c.*3142A>C),
15847875(c.*4793G>T),
15847929(c.*4847A>G),
15848225(c.*5143G>A),
15848263(c.*5181G>T),
15848387(c.*5305G>A),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
15806167 (c.280+210dupC),
15806187 (c.280+230_280+231insTT),
15808304 (c.376+568_376+569dupGT),
15809864 (c.376+2129dupT),
15810242 (c.376+2507_376+2508insCT),
15810552 (c.377-2485dupT),
15811150 (c.377-1889dupA),
15811734 (c.377-1307_377-1306insC),
15812721 (c.377-313dupT),
15816728 (c.499-2206_499-2205insACCATCTAG),
15817475 (c.499-1455dupC),
15818217 (c.499-715_499-714dupTC),
15822044 (c.761+2288dupA),
15822488 (c.761+2726_761+2727insATTT),
15825485 (c.761+5726_761+5729dupTTTG),
15828001 (c.762-3506_762-3505insAATA),
15828202 (c.762-3305_762-3304insA),
15829769 (c.762-1739_762-1738dupTA),
15829849 (c.762-1658_762-1657insATAAGT),
15832014 (c.821+448_821+449insTTTG),
15833049 (c.822-346_822-344dupAAA),
15834807 (c.910+1319_910+1320insCCA),
15836571 (c.911-1611_911-1610insC),
15839486 (c.1017+1198_1017+1199insA),
15840276 (c.1017+1988_1017+1989insC),
15840679 (c.1018-2234_1018-2233dupTT),
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
15806054 (c.280+99delC),
15807500 (c.281-138delA),
15807637 (c.281-3_281-2delTA),
15807892 (c.376+160_376+161delTA),
15808060 (c.376+328_376+329delGG),
15808993 (c.376+1270_376+1274delTGTTT),
15812177 (c.377-854delT),
15813003 (c.377-35_377-29delTAATGCT),
15814165 (c.498+1007delA),
15814168 (c.498+1007delA),
15814267 (c.498+1106_498+1113delGAGAGAGA),
15816050 (c.499-2883delG),
15818423 (c.499-507delA),
15818717 (c.499-216_499-215delGG),
15819261 (c.648+179delA),
15820163 (c.761+404_761+407delAGTT),
15824937 (c.761+5175delT),
15824947 (c.761+5191delT),
15824953 (c.761+5191delT),
15826035 (c.762-5465_762-5461delGTTCA),
15828544 (c.762-2957_762-2954delAGCA),
15828563 (c.762-2939delA),
15828567 (c.762-2938_762-2937delGA),
15829299 (c.762-2201_762-2197delTTTAC),
15829906 (c.762-1596_762-1590delCTTTTTT),
15830608 (c.762-898_762-897delAG),
15830782 (c.762-716delA),
15831491 (c.762-15_762-14delTT),
15831501 (c.762-5_762-2delCACA),
15833234 (c.822-165_822-164delAA),
15834563 (c.910+1077delT),
15835522 (c.910+2041delA),
15836905 (c.911-1272_911-1267delCCAAAA),
15838071 (c.911-110_911-104delCGGAAGA),
15840218 (c.1017+1941delT),
15840872 (c.1018-2039_1018-2038delGG),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 5 |
|---|
| non-synonymous num | 4 |
|---|
| synonymous substitutions |
15805797 (p.Leu40Leu),
15805875 (p.Leu66Leu),
15805911 (p.Arg78Arg),
15819719 (p.Thr239Thr),
15833428 (p.Leu283Leu),
|
|---|
| non-synonymous substitutions |
15805795 (p.Leu40Ile),
15805828 (p.Ala51Thr),
15831550 (p.Thr269Ser),
15833438 (p.Arg287Ser),
|
|---|
B6 transcript
(ENSMUST00000027057)
|
MAETVSSAARDAPSREGWTDSDSPEQEEVGDDAELLQCQLQLGTPREMENAELVAEVEAV
AAGWMLDFLCLSLCRAFRDGRSEDFRRTRDSAEAIIHGLHRLTAYQLKTVYICQFLTRVA
SGKALDAQFEVDERITPLESALMIWNSIEKEHDKLHDEIKNLIKIQPLERKLLKIISQKD
VFHSLFQHFSYSCMMEKIQSYVGDVLSEKSSTFLMKAATKVVENEKARTQASKDRPDATN
TGMDTEVGLNKEKSVNGQQSTETEPLVDTVSSIRSHKNALSQLKHRRAPSDFSRNEARTG
TLQCETTMERNRRTSGRNRLCVSENQPDTDDKSGRRKRQTWLWEEDRILKCGVKKYGEGN
WAKILSHYKFNNRTSVMLKDRWRTMKRLKLIS*
|
|
MSMv4 transcript
|
MAETVSSAARDAPSREGWTDSDSPEQEEVGDDAELLQCQMQLGTPREMENTELVAEVEAV
AAGWMLDFLCLSLCRAFRDGRSEDFRRTRDSAEAIIHGLHRLTAYQLKTVYICQFLTRVA
SGKALDAQFEVDERITPLESALMIWNSIEKEHDKLHDEIKNLIKIQPLERKLLKIISQKD
VFHSLFQHFSYSCMMEKIQSYVGDVLSEKSSTFLMKAATKVVENEKARTQASKDRPDATN
TGMDTEVGLNKEKSVNGQQSTETEPLVDSVSSIRSHKNALSQLKHRSAPSDFSRNEARTG
TLQCETTMERNRRTSGRNRLCVSENQPDTDDKSGRRKRQTWLWEEDRILKCGVKKYGEGN
WAKILSHYKFNNRTSVMLKDRWRTMKRLKLIS*
|
| homology | 98.98 (393 / 393) |
|---|
|
