| Reports |
|---|
| substitution |
|---|
| cSNPs | 19 |
|---|
| Insertion | 13 |
|---|
| Deletion | 21 |
|---|
| SNPs |
-1kb
96665141(c.-5270A>G),
96665176(c.-5235C>T),
96665442(c.-4969G>A),
96666698(c.-3713A>G),
96666757(c.-3654A>C),
96667108(c.-3303T>C),
96667167(c.-3244C>T),
96667316(c.-3095A>C),
96667772(c.-2639G>A),
96667831(c.-2580G>A),
96667902(c.-2509A>G),
96668001(c.-2410T>C),
96668229(c.-2182C>T),
96668342(c.-2069C>T),
96669433(c.-978G>A),
96669484(c.-927T>C),
96669864(c.-547T>C),
96669876(c.-535A>T),
96670030(c.-381A>C),
96670066(c.-345T>C),
- 5'UTR
- CDS
96683022(c.774C>T),
96683302(c.903C>T),
96683626(c.1227T>A),
96683653(c.1254G>C),
96683723(c.1324C>T),
96683851(c.1452C>G),
96684101(c.1702C>T),
96684150(c.1751T>C),
96684367(c.1968C>T),
96684465(c.2066T>G),
96684748(c.2349A>G),
96684788(c.2389A>G),
96684823(c.2424A>G),
96684925(c.2526A>C),
96684937(c.2538C>A),
96684952(c.2553C>T),
96685102(c.2703C>T),
96689169(c.2799C>A),
96689181(c.2811G>T),
- 3'UTR
- INTRON
96670480(c.39+31T>G),
96670744(c.39+295A>G),
96670769(c.39+320C>T),
96670806(c.39+357G>A),
96670879(c.39+430T>G),
96671217(c.39+768A>G),
96671245(c.39+796T>C),
96671542(c.39+1093T>C),
96671573(c.39+1124G>A),
96672212(c.39+1763T>G),
96672315(c.39+1866A>G),
96672439(c.39+1990C>G),
96672719(c.39+2270A>T),
96672844(c.39+2395C>T),
96673028(c.39+2579G>C),
96673066(c.39+2617A>G),
96673149(c.39+2700A>G),
96673319(c.39+2870T>C),
96673320(c.39+2871A>G),
96673323(c.39+2874A>G),
96673326(c.39+2877A>G),
96673329(c.39+2880A>G),
96673367(c.39+2918T>C),
96673767(c.39+3318T>C),
96673867(c.39+3418T>C),
96673971(c.39+3522C>T),
96674086(c.39+3637A>C),
96674087(c.39+3638A>C),
96674140(c.39+3691C>G),
96674152(c.39+3703G>A),
96674161(c.39+3712C>G),
96674231(c.39+3782T>C),
96674338(c.40-3795A>G),
96674412(c.40-3721C>T),
96674725(c.40-3408G>A),
96674730(c.40-3403A>T),
96675008(c.40-3125A>C),
96675053(c.40-3080T>C),
96675091(c.40-3042A>G),
96675738(c.40-2395T>C),
96675834(c.40-2299A>G),
96676443(c.40-1690T>C),
96676712(c.40-1421T>A),
96677011(c.40-1122G>A),
96677200(c.40-933T>G),
96677353(c.40-780G>A),
96677663(c.40-470T>C),
96677809(c.40-324A>G),
96678335(c.170+72T>G),
96678892(c.171-288C>A),
96680003(c.324+309G>C),
96680106(c.325-365A>G),
96680370(c.325-101C>T),
96680828(c.453+131A>C),
96681242(c.560+174T>C),
96681258(c.560+190A>T),
96681266(c.560+198C>T),
96681275(c.560+207A>G),
96681499(c.560+431T>C),
96681678(c.561-349A>G),
96681956(c.561-71A>G),
96681962(c.561-65T>G),
96683045(c.783+14G>A),
96683074(c.783+43A>T),
96685316(c.2775+142A>G),
96685328(c.2775+154A>T),
96685332(c.2775+158A>G),
96685401(c.2775+227C>A),
96685408(c.2775+234A>G),
96685474(c.2775+300T>G),
96685531(c.2775+357G>T),
96687229(c.2776-1917T>C),
96687744(c.2776-1402A>G),
96687926(c.2776-1220T>G),
96687929(c.2776-1217G>A),
96688047(c.2776-1099C>T),
96688071(c.2776-1075A>G),
96688776(c.2776-370A>G),
96688790(c.2776-356A>G),
96688858(c.2776-288A>G),
96688911(c.2776-235C>A),
96688912(c.2776-234T>G),
96689014(c.2776-132G>A),
96689116(c.2776-30A>T),
96689306(c.2865+71G>A),
96689421(c.2866-24T>C),
96689428(c.2866-17T>A),
96689613(c.2931+103C>T),
96689702(c.2931+192G>A),
96689962(c.2932-230A>C),
96690031(c.2932-161C>T),
96690106(c.2932-86T>C),
96690146(c.2932-46T>C),
-
+1kb
96691690(c.*1439A>T),
96691987(c.*1736T>C),
96692443(c.*2192A>G),
96692446(c.*2195C>A),
96692606(c.*2355C>T),
96692745(c.*2494A>G),
96692946(c.*2695A>G),
96693133(c.*2882A>C),
96693154(c.*2903C>T),
96693320(c.*3069T>C),
96693340(c.*3089A>G),
96693463(c.*3212C>T),
96693469(c.*3218T>C),
96693744(c.*3493T>C),
96693867(c.*3616A>G),
96693874(c.*3623A>T),
96693887(c.*3636C>T),
96693923(c.*3672T>C),
96694007(c.*3756G>T),
96694055(c.*3804G>A),
96694361(c.*4110C>T),
96694567(c.*4316G>T),
96694880(c.*4629G>A),
96694892(c.*4641T>C),
96694928(c.*4677C>T),
96694940(c.*4689T>A),
96695041(c.*4790A>G),
96695175(c.*4924G>A),
96695578(c.*5327A>T),
96695644(c.*5393T>A),
96695729(c.*5478T>A),
96695901(c.*5650G>T),
96695942(c.*5691G>T),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
96672567 (c.39+2128_39+2129delTT),
96672576 (c.39+2128_39+2129delTT),
96674468 (c.40-3655_40-3654delCC),
96675028 (c.40-3092_40-3087delTTTTTT),
96676139 (c.40-1985_40-1975delGGGGGGGTTGG),
96679608 (c.260-21delT),
96681137 (c.560+77_560+78delAC),
96681312 (c.560+245_560+247delCTT),
96682439 (c.745+230_745+234delATCTT),
96682759 (c.746-234_746-233delCT),
96683038 (c.783+8_783+11delCCCT),
96683149 (c.784-33_784-30delACAG),
96687290 (c.2776-1854_2776-1848delTGAATGA),
96689633 (c.2931+124delC),
96690054 (c.2932-137delA),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 13 |
|---|
| non-synonymous num | 6 |
|---|
| synonymous substitutions |
96683022 (p.His258His),
96683302 (p.Phe301Phe),
96683626 (p.Ala409Ala),
96683851 (p.Ala484Ala),
96684367 (p.Pro656Pro),
96684748 (p.Gly783Gly),
96684823 (p.Gln808Gln),
96684925 (p.Ala842Ala),
96684937 (p.Gly846Gly),
96684952 (p.Val851Val),
96685102 (p.Phe901Phe),
96689169 (p.Leu933Leu),
96689181 (p.Ser937Ser),
|
|---|
| non-synonymous substitutions |
96683653 (p.Lys418Asn),
96683723 (p.Pro442Ser),
96684101 (p.Pro568Ser),
96684150 (p.Leu584Pro),
96684465 (p.Leu689Arg),
96684788 (p.Ser797Gly),
|
|---|
B6 transcript
(ENSMUST00000048427)
|
MKRIFSCSSSQVAVEKWNRRDQKLLEAVQRGDVGRVAALASRKSARPTKLDSNGQSPFHL
AASKGLTECLTILLANGADINSKNEDGSTALHLATISCQPQCVKVLLQHGANEDAVDAEN
RSPLHWAASSGCASSVLLLCDHEAFLDVLDNDGRTPLMIASLGGHAAICSQLLQRGARVN
VTDKDDKSALILACEKGSAEVAELLLSHGADAGAVDSLGHNALHYALRTQDKELWRLLQQ
ALNRRRRGGHGLVQHPDHPSQASSCEPRVGSPPKNSRKVEPEEEQEEEGEERCSEEWRWK
FEEEQRKVHQLEQELVRKTDECKAHAAAFSSLEEQIREQAQELGHLLVQEPGAPGNQGPG
LRPEGDGMEEGCPLNLLAERIQELKKQQKALATINPTLVPKRAEELAPAEIHHEVHRKSQ
PEQGLPQGPSSETTGKATGQQPNTNGGQNLGLQNTEQVCAGQKERTPAPGTETAGTVGEP
VGIAMNQLLLQLREELAAVWREKDAARGALSRPVLEGALGTPRAEAAAAAWEKMEARLER
VLVRLDGAKMGLHVKPEVPVQGSRDGAPKAVPGCSKEQEEKKALGTRGEPLGAPGKEQAL
GGGLAKGQLEKEVSALRLSNSNLLEELGELGRERQRLQGELQSLTQRLHREFVPKPEAQV
QLQQLRRSVGMLTEELAMEKEATDKLRRLLASQTSGLQGLWKCLPPDLVGKGNTQSTAAE
PLEELQACISTLVDRHLEAQRVLARLEEENQQLRGSLAPCGEPEASLKVTASPQVAALEE
DLGMLEEELRAVQATMSGKSQEICKLKQLLYQATEEVAELRAREAASLRQHEKTRGSLVA
QAQAWGQELKVVLEKYNTACREMTRLRDTVAEERRRSEDLAARAAEQERQAGEMRGRSEQ
FEKTAELLKEKTNHLIGACRDKEAKIKELLKKLEQLSEEVLEVRGENAHLALQLQDSQKN
HEEIISTYRSHLLNAARGYMEQDVYNILLRILSMQE*
|
|
MSMv4 transcript
|
MKRIFSCSSSQVAVEKWNRRDQKLLEAVQRGDVGRVAALASRKSARPTKLDSNGQSPFHL
AASKGLTECLTILLANGADINSKNEDGSTALHLATISCQPQCVKVLLQHGANEDAVDAEN
RSPLHWAASSGCASSVLLLCDHEAFLDVLDNDGRTPLMIASLGGHAAICSQLLQRGARVN
VTDKDDKSALILACEKGSAEVAELLLSHGADAGAVDSLGHNALHYALRTQDKELWRLLQQ
ALNRRRRGGHGLVQHPDHPSQASSCEPRVGSPPKNSRKVEPEEEQEEEGEERCSEEWRWK
FEEEQRKVHQLEQELVRKTDECKAHAAAFSSLEEQIREQAQELGHLLVQEPGAPGNQGPG
LRPEGDGMEEGCPLNLLAERIQELKKQQKALATINPTLVPKRAEELAPAEIHHEVHRNSQ
PEQGLPQGPSSETTGKATGQQSNTNGGQNLGLQNTEQVCAGQKERTPAPGTETAGTVGEP
VGIAMNQLLLQLREELAAVWREKDAARGALSRPVLEGALGTPRAEAAAAAWEKMEARLER
VLVRLDGAKMGLHVKPEVPVQGSRDGASKAVPGCSKEQEEKKAPGTRGEPLGAPGKEQAL
GGGLAKGQLEKEVSALRLSNSNLLEELGELGRERQRLQGELQSLTQRLHREFVPKPEAQV
QLQQLRRSVGMLTEELAMEKEATDKLRRRLASQTSGLQGLWKCLPPDLVGKGNTQSTAAE
PLEELQACISTLVDRHLEAQRVLARLEEENQQLRGSLAPCGEPEASLKVTASPQVAALEE
DLGMLEEELRAVQATMGGKSQEICKLKQLLYQATEEVAELRAREAASLRQHEKTRGSLVA
QAQAWGQELKVVLEKYNTACREMTRLRDTVAEERRRSEDLAARAAEQERQAGEMRGRSEQ
FEKTAELLKEKTNHLIGACRDKEAKIKELLKKLEQLSEEVLEVRGENAHLALQLQDSQKN
HEEIISTYRSHLLNAARGYMEQDVYNILLRILSMQE*
|
| homology | 99.40 (997 / 997) |
|---|
|
