mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999991738381 (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM041238)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:114288920C>AN/A show variant in all transcripts IGV

HGNC symbol

ANK2

Ensembl transcript ID

ENST00000264366

Genbank transcript ID

N/A

UniProt peptide

Q01484

alteration type

single base exchange

alteration region

CDS

DNA changes

c.11132C>A
cDNA.11132C>A
g.549656C>A

AA changes

T3711N Score: 65 explain score(s)

position(s) of altered AA
if AA alteration in CDS

3711

frameshift

known variant

Reference ID: rs121912705

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	75	75

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.386	0.013
	0.916	0.107
(flanking)	-0.064	0.14

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	549650	wt: 0.66 / mu: 0.83	wt: CTTTCCCCAAACTCA mu: CTTTCCCCAAAATCA	TTCC\|ccaa
Donor increased	549660	wt: 0.40 / mu: 0.68	wt: ACTCACAAGGAGCAA mu: AATCACAAGGAGCAA	TCAC\|aagg
Donor marginally increased	549657	wt: 0.9512 / mu: 0.9516 (marginal change - not scored)	wt: CAAACTCACAAGGAG mu: CAAAATCACAAGGAG	AACT\|caca
Acc gained	549655	0.38	mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA	caaa\|ATCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3711

mutated

not conserved

3711

Ptroglodytes

all identical

ENSPTRG00000016382

3744

Mmulatta

all identical

ENSMMUG00000008633

1659

Fcatus

no alignment

ENSFCAG00000005384

n/a

Mmusculus

not conserved

ENSMUSG00000032826

786

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000009026

3581

Dmelanogaster

no alignment

FBgn0261788

n/a

Celegans

not conserved

B0350.2

3914

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
3735	3735	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3737	3737	CONFLICT	A -> S (in Ref. 1; CAA40279 and 3; CAB42644).	might get lost (downstream of altered splice site)
3776	3776	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3793	3793	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3795	3795	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
3797	3797	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
3802	3802	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3803	3803	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3823	3823	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
3844	3844	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
3955	3956	CONFLICT	NN -> SM (in Ref. 5; AC093879).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11775 / 11775

position (AA) of stopcodon in wt / mu AA sequence

3925 / 3925

position of stopcodon in wt / mu cDNA

11775 / 11775

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

11761

theoretical NMD boundary in CDS

11710

length of CDS

11775

coding sequence (CDS) position

11132

cDNA position
(for ins/del: last normal base / first normal base)

11132

gDNA position
(for ins/del: last normal base / first normal base)

549656

chromosomal position
(for ins/del: last normal base / first normal base)

114288920

original gDNA sequence snippet

AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC

altered gDNA sequence snippet

AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC

original cDNA sequence snippet

AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC

altered cDNA sequence snippet

AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC

wildtype AA sequence

MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGPVIVEIPH FAALRGKERE LVVLRSENGD SWKEHFCDYT
EDELNEILNG MDEVLDSPED LEKKRICRII TRDFPQYFAV VSRIKQDSNL IGPEGGVLSS
TVVPQVQAVF PEGALTKRIR VGLQAQPMHS ELVKKILGNK ATFSPIVTLE PRRRKFHKPI
TMTIPVPKAS SDVMLNGFGG DAPTLRLLCS ITGGTTPAQW EDITGTTPLT FVNECVSFTT
NVSARFWLID CRQIQESVTF ASQVYREIIC VPYMAKFVVF AKSHDPIEAR LRCFCMTDDK
VDKTLEQQEN FAEVARSRDV EVLEGKPIYV DCFGNLVPLT KSGQHHIFSF FAFKENRLPL
FVKVRDTTQE PCGRLSFMKE PKSTRGLVHQ AICNLNITLP IYTKESESDQ EQEEEIDMTS
EKNDETESTE TSVLKSHLVN EVPVLASPDL LSEVSEMKQD LIKMTAILTT DVSDKAGSIK
VKELVKAAEE EPGEPFEIVE RVKEDLEKVN EILRSGTCTR DESSVQSSRS ERGLVEEEWV
IVSDEEIEEA RQKAPLEITE YPCVEVRIDK EIKGKVEKDS TGLVNYLTDD LNTCVPLPKE
QLQTVQDKAG KKCEALAVGR SSEKEGKDIP PDETQSTQKQ HKPSLGIKKP VRRKLKEKQK
QKEEGLQASA EKAELKKGSS EESLGEDPGL APEPLPTVKA TSPLIEETPI GSIKDKVKAL
QKRVEDEQKG RSKLPIRVKG KEDVPKKTTH RPHPAASPSL KSERHAPGSP SPKTERHSTL
SSSAKTERHP PVSPSSKTEK HSPVSPSAKT ERHSPASSSS KTEKHSPVSP STKTERHSPV
SSTKTERHPP VSPSGKTDKR PPVSPSGRTE KHPPVSPGRT EKRLPVSPSG RTDKHQPVST
AGKTEKHLPV SPSGKTEKQP PVSPTSKTER IEETMSVREL MKAFQSGQDP SKHKTGLFEH
KSAKQKQPQE KGKVRVEKEK GPILTQREAQ KTENQTIKRG QRLPVTGTAE SKRGVRVSSI
GVKKEDAAGG KEKVLSHKIP EPVQSVPEEE SHRESEVPKE KMADEQGDMD LQISPDRKTS
TDFSEVIKQE LEDNDKYQQF RLSEETEKAQ LHLDQVLTSP FNTTFPLDYM KDEFLPALSL
QSGALDGSSE SLKNEGVAGS PCGSLMEGTP QISSEESYKH EGLAETPETS PESLSFSPKK
SEEQTGETKE STKTETTTEI RSEKEHPTTK DITGGSEERG ATVTEDSETS TESFQKEATL
GSPKDTSPKR QDDCTGSCSV ALAKETPTGL TEEAACDEGQ RTFGSSAHKT QTDSEVQEST
ATSDETKALP LPEASVKTDT GTESKPQGVI RSPQGLELAL PSRDSEVLSA VADDSLAVSH
KDSLEASPVL EDNSSHKTPD SLEPSPLKES PCRDSLESSP VEPKMKAGIF PSHFPLPAAV
AKTELLTEVA SVRSRLLRDP DGSAEDDSLE QTSLMESSGK SPLSPDTPSS EEVSYEVTPK
TTDVSTPKPA VIHECAEEDD SENGEKKRFT PEEEMFKMVT KIKMFDELEQ EAKQKRDYKK
EPKQEESSSS SDPDADCSVD VDEPKHTGSG EDESGVPVLV TSESRKVSSS SESEPELAQL
KKGADSGLLP EPVIRVQPPS PLPSSMDSNS SPEEVQFQPV VSKQYTFKMN EDTQEEPGKS
EEEKDSESHL AEDRHAVSTE AEDRSYDKLN RDTDQPKICD GHGCEAMSPS SSAAPVSSGL
QSPTGDDVDE QPVIYKESLA LQGTHEKDTE GEELDVSRAE SPQADCPSES FSSSSSLPHC
LVSEGKELDE DISATSSIQK TEVTKTDETF ENLPKDCPSQ DSSITTQTDR FSMDVPVSDL
AENDEIYDPQ ITSPYENVPS QSFFSSEESK TQTDANHTTS FHSSEVYSVT ITSPVEDVVV
ASSSSGTVLS KESNFEGQDI KMESQQESTL WEMQSDSVSS SFEPTMSATT TVVGEQISKV
IITKTDVDSD SWSEIREDDE AFEARVKEEE QKIFGLMVDR QSQGTTPDTT PARTPTEEGT
PTSEQNPFLF QEGKLFEMTR SGAIDMTKRS YADESFHFFQ IGQESREETL SEDVKEGATG
ADPLPLETSA ESLALSESKE TVDDEADLLP DDVSEEVEEI PASDAQLNSQ MGISASTETP
TKEAVSVGTK DLPTVQTGDI PPLSGVKQIS CPDSSEPAVQ VQLDFSTLTR SVYSDRGDDS
PDSSPEEQKS VIEIPTAPME NVPFTESKSK IPVRTMPTST PAPPSAEYES SVSEDFLSSV
DEENKADEAK PKSKLPVKVP LQRVEQQLSD LDTSVQKTVA PQGQDMASIA PDNRSKSESD
ASSLDSKTKC PVKTRSYTET ETESRERAEE LELESEEGAT RPKILTSRLP VKSRSTTSSC
RGGTSPTKES KEHFFDLYRN SIEFFEEISD EASKLVDRLT QSEREQEIVS DDESSSALEV
SVIENLPPVE TEHSVPEDIF DTRPIWDESI ETLIERIPDE NGHDHAEDPQ DEQERIEERL
AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS HALLKYWLER DGKHATDTNL
VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL DHSEGFSVLQ EELCTAQHKQ
KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG DSSATALFPQ THKEQVQQDF
SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS PSKTPEEVST PAEEEKLYLQ
TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD NQPETCERLD EDAAFEKGDD
MPEIPPETVT EEEYIDEHGH TVVKKVTRKI IRRYVSSEGT EKEEIMVQGM PQEPVNIEEG
DGYSKVIKRV VLKSDTEQSE DNNE*

mutated AA sequence

MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGPVIVEIPH FAALRGKERE LVVLRSENGD SWKEHFCDYT
EDELNEILNG MDEVLDSPED LEKKRICRII TRDFPQYFAV VSRIKQDSNL IGPEGGVLSS
TVVPQVQAVF PEGALTKRIR VGLQAQPMHS ELVKKILGNK ATFSPIVTLE PRRRKFHKPI
TMTIPVPKAS SDVMLNGFGG DAPTLRLLCS ITGGTTPAQW EDITGTTPLT FVNECVSFTT
NVSARFWLID CRQIQESVTF ASQVYREIIC VPYMAKFVVF AKSHDPIEAR LRCFCMTDDK
VDKTLEQQEN FAEVARSRDV EVLEGKPIYV DCFGNLVPLT KSGQHHIFSF FAFKENRLPL
FVKVRDTTQE PCGRLSFMKE PKSTRGLVHQ AICNLNITLP IYTKESESDQ EQEEEIDMTS
EKNDETESTE TSVLKSHLVN EVPVLASPDL LSEVSEMKQD LIKMTAILTT DVSDKAGSIK
VKELVKAAEE EPGEPFEIVE RVKEDLEKVN EILRSGTCTR DESSVQSSRS ERGLVEEEWV
IVSDEEIEEA RQKAPLEITE YPCVEVRIDK EIKGKVEKDS TGLVNYLTDD LNTCVPLPKE
QLQTVQDKAG KKCEALAVGR SSEKEGKDIP PDETQSTQKQ HKPSLGIKKP VRRKLKEKQK
QKEEGLQASA EKAELKKGSS EESLGEDPGL APEPLPTVKA TSPLIEETPI GSIKDKVKAL
QKRVEDEQKG RSKLPIRVKG KEDVPKKTTH RPHPAASPSL KSERHAPGSP SPKTERHSTL
SSSAKTERHP PVSPSSKTEK HSPVSPSAKT ERHSPASSSS KTEKHSPVSP STKTERHSPV
SSTKTERHPP VSPSGKTDKR PPVSPSGRTE KHPPVSPGRT EKRLPVSPSG RTDKHQPVST
AGKTEKHLPV SPSGKTEKQP PVSPTSKTER IEETMSVREL MKAFQSGQDP SKHKTGLFEH
KSAKQKQPQE KGKVRVEKEK GPILTQREAQ KTENQTIKRG QRLPVTGTAE SKRGVRVSSI
GVKKEDAAGG KEKVLSHKIP EPVQSVPEEE SHRESEVPKE KMADEQGDMD LQISPDRKTS
TDFSEVIKQE LEDNDKYQQF RLSEETEKAQ LHLDQVLTSP FNTTFPLDYM KDEFLPALSL
QSGALDGSSE SLKNEGVAGS PCGSLMEGTP QISSEESYKH EGLAETPETS PESLSFSPKK
SEEQTGETKE STKTETTTEI RSEKEHPTTK DITGGSEERG ATVTEDSETS TESFQKEATL
GSPKDTSPKR QDDCTGSCSV ALAKETPTGL TEEAACDEGQ RTFGSSAHKT QTDSEVQEST
ATSDETKALP LPEASVKTDT GTESKPQGVI RSPQGLELAL PSRDSEVLSA VADDSLAVSH
KDSLEASPVL EDNSSHKTPD SLEPSPLKES PCRDSLESSP VEPKMKAGIF PSHFPLPAAV
AKTELLTEVA SVRSRLLRDP DGSAEDDSLE QTSLMESSGK SPLSPDTPSS EEVSYEVTPK
TTDVSTPKPA VIHECAEEDD SENGEKKRFT PEEEMFKMVT KIKMFDELEQ EAKQKRDYKK
EPKQEESSSS SDPDADCSVD VDEPKHTGSG EDESGVPVLV TSESRKVSSS SESEPELAQL
KKGADSGLLP EPVIRVQPPS PLPSSMDSNS SPEEVQFQPV VSKQYTFKMN EDTQEEPGKS
EEEKDSESHL AEDRHAVSTE AEDRSYDKLN RDTDQPKICD GHGCEAMSPS SSAAPVSSGL
QSPTGDDVDE QPVIYKESLA LQGTHEKDTE GEELDVSRAE SPQADCPSES FSSSSSLPHC
LVSEGKELDE DISATSSIQK TEVTKTDETF ENLPKDCPSQ DSSITTQTDR FSMDVPVSDL
AENDEIYDPQ ITSPYENVPS QSFFSSEESK TQTDANHTTS FHSSEVYSVT ITSPVEDVVV
ASSSSGTVLS KESNFEGQDI KMESQQESTL WEMQSDSVSS SFEPTMSATT TVVGEQISKV
IITKTDVDSD SWSEIREDDE AFEARVKEEE QKIFGLMVDR QSQGTTPDTT PARTPTEEGT
PTSEQNPFLF QEGKLFEMTR SGAIDMTKRS YADESFHFFQ IGQESREETL SEDVKEGATG
ADPLPLETSA ESLALSESKE TVDDEADLLP DDVSEEVEEI PASDAQLNSQ MGISASTETP
TKEAVSVGTK DLPTVQTGDI PPLSGVKQIS CPDSSEPAVQ VQLDFSTLTR SVYSDRGDDS
PDSSPEEQKS VIEIPTAPME NVPFTESKSK IPVRTMPTST PAPPSAEYES SVSEDFLSSV
DEENKADEAK PKSKLPVKVP LQRVEQQLSD LDTSVQKTVA PQGQDMASIA PDNRSKSESD
ASSLDSKTKC PVKTRSYTET ETESRERAEE LELESEEGAT RPKILTSRLP VKSRSTTSSC
RGGTSPTKES KEHFFDLYRN SIEFFEEISD EASKLVDRLT QSEREQEIVS DDESSSALEV
SVIENLPPVE TEHSVPEDIF DTRPIWDESI ETLIERIPDE NGHDHAEDPQ DEQERIEERL
AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS HALLKYWLER DGKHATDTNL
VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL DHSEGFSVLQ EELCTAQHKQ
KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG DSSATALFPQ NHKEQVQQDF
SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS PSKTPEEVST PAEEEKLYLQ
TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD NQPETCERLD EDAAFEKGDD
MPEIPPETVT EEEYIDEHGH TVVKKVTRKI IRRYVSSEGT EKEEIMVQGM PQEPVNIEEG
DGYSKVIKRV VLKSDTEQSE DNNE*

speed

0.23 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project