Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999985875276      (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 ENST00000506722
Genbank transcript ID NM_001127493
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.4949C>A
cDNA.5144C>A
g.549656C>A
AA changes T1650N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1650
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

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
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA		 TTCC|ccaa
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA		 TCAC|aagg
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG		 AACT|caca
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1650GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    1650GDSSATALFPQNHKEQVQQDFSG
Ptroglodytes  not conserved  ENSPTRG00000016382  1650YLTDDLNTYVPLPKEQLQTVQDKAG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQVQQDFSG
Fcatus  all identical  ENSFCAG00000005384  3734ELFPQTHKEQVQQDFSG
Mmusculus  not conserved  ENSMUSG00000032826  786GDSPAAALSPQMHQEPVQQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  all identical  FBgn0261788  1587KRLSIERSIPASTQKKEITREITEI
Celegans  not conserved  B0350.2  1719LNEDEQQKWE---
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18061817REPEATRepeat A.might get lost (downstream of altered splice site)
18061983REGIONRepeat-rich region.might get lost (downstream of altered splice site)
18181829REPEATRepeat A.might get lost (downstream of altered splice site)
18301841REPEATRepeat A.might get lost (downstream of altered splice site)
18421853REPEATRepeat A.might get lost (downstream of altered splice site)
18541865REPEATRepeat A.might get lost (downstream of altered splice site)
18661877REPEATRepeat A.might get lost (downstream of altered splice site)
18781889REPEATRepeat A.might get lost (downstream of altered splice site)
18901900REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19011912REPEATRepeat A.might get lost (downstream of altered splice site)
19131924REPEATRepeat A.might get lost (downstream of altered splice site)
19251935REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19361947REPEATRepeat A.might get lost (downstream of altered splice site)
19481959REPEATRepeat A.might get lost (downstream of altered splice site)
19601971REPEATRepeat A.might get lost (downstream of altered splice site)
19721983REPEATRepeat A.might get lost (downstream of altered splice site)
25832583MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27872787CONFLICTA -> R (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
29992999CONFLICTQ -> L (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
30933093MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31403141CONFLICTEE -> RY (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
31853185CONFLICTD -> S (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
32733273MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33903390MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34093409MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34103410MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
35693653DOMAINDeath 2.might get lost (downstream of altered splice site)
35713580HELIXmight get lost (downstream of altered splice site)
35833590HELIXmight get lost (downstream of altered splice site)
35953604HELIXmight get lost (downstream of altered splice site)
36093624HELIXmight get lost (downstream of altered splice site)
36253627HELIXmight get lost (downstream of altered splice site)
36303639HELIXmight get lost (downstream of altered splice site)
36433646HELIXmight get lost (downstream of altered splice site)
36993699CONFLICTV -> A (in Ref. 4; CAD97827).might get lost (downstream of altered splice site)
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> 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 5592 / 5592
position (AA) of stopcodon in wt / mu AA sequence 1864 / 1864
position of stopcodon in wt / mu cDNA 5787 / 5787
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 196 / 196
chromosome 4
strand 1
last intron/exon boundary 5773
theoretical NMD boundary in CDS 5527
length of CDS 5592
coding sequence (CDS) position 4949
cDNA position
(for ins/del: last normal base / first normal base)		 5144
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 MTTMLQKSDS NASFLRAARA GNLDKVVEYL KGGIDINTCN QNGLNALHLA AKEGHVGLVQ
ELLGRGSSVD SATKKGNTAL HIASLAGQAE VVKVLVKEGA NINAQSQNGF TPLYMAAQEN
HIDVVKYLLE NGANQSTATE DGFTPLAVAL QQGHNQAVAI LLENDTKGKV RLPALHIAAR
KDDTKSAALL LQNDHNADVQ SKMMVNRTTE SGFTPLHIAA HYGNVNVATL LLNRGAAVDF
TARNGITPLH VASKRGNTNM VKLLLDRGGQ IDAKTRDGLT PLHCAARSGH DQVVELLLER
GAPLLARTKN GLSPLHMAAQ GDHVECVKHL LQHKAPVDDV TLDYLTALHV AAHCGHYRVT
KLLLDKRANP NARALNGFTP LHIACKKNRI KVMELLVKYG ASIQAITESG LTPIHVAAFM
GHLNIVLLLL QNGASPDVTN IRGETALHMA ARAGQVEVVR CLLRNGALVD ARAREEQTPL
HIASRLGKTE IVQLLLQHMA HPDAATTNGY TPLHISAREG QVDVASVLLE AGAAHSLATK
KGFTPLHVAA KYGSLDVAKL LLQRRAAADS AGKNGLTPLH VAAHYDNQKV ALLLLEKGAS
PHATAKNGYT PLHIAAKKNQ MQIASTLLNY GAETNIVTKQ GVTPLHLASQ EGHTDMVTLL
LDKGANIHMS TKSGLTSLHL AAQEDKVNVA DILTKHGADQ DAHTKLGYTP LIVACHYGNV
KMVNFLLKQG ANVNAKTKNG YTPLHQAAQQ GHTHIINVLL QHGAKPNATT ANGNTALAIA
KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD DTMTGDGGEY
LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS HASYLRDSAV
MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGRASP CLERDNSSFL
VSFMVDARGG AMRGCRHNGL RIIIPPRKCT APTRVTCRLV KRHRLATMPP MVEGEGLASR
LIEVGPSGAQ FLGKLHLPTA PPPLNEGESL VSRILQLGPP GTKFLGPVIV EIPHFAALRG
KERELVVLRS ENGDSWKEHF CDYTEDELNE ILNGMDEVLD SPEDLEKKRI CRIITRDFPQ
YFAVVSRIKQ DSNLIGPEGG VLSSTVVPQV QAVFPEGALT KRIRVGLQAQ PMHSELVKKI
LGNKATFSPI VTLEPRRRKF HKPITMTIPV PKASSDVMLN GFGGDAPTLR LLCSITGGTT
PAQWEDITGT TPLTFVNECV SFTTNVSARF WLIDCRQIQE SVTFASQVYR EIICVPYMAK
FVVFAKSHDP IEARLRCFCM TDDKVDKTLE QQENFAEVAR SRDVEVLEGK PIYVDCFGNL
VPLTKSGQHH IFSFFAFKEN RLPLFVKVRD TTQEPCGRLS FMKEPKSTRG LVHQAICNLN
ITLPIYTKES ESDQEQEEEI DMTSEKNPQD EQERIEERLA YIADHLGFSW TELARELDFT
EEQIHQIRIE NPNSLQDQSH ALLKYWLERD GKHATDTNLV ECLTKINRMD IVHLMETNTE
PLQERISHSY AEIEQTITLD HSEGFSVLQE ELCTAQHKQK EEQAVSKESE TCDHPPIVSE
EDISVGYSTF QDGVPKTEGD SSATALFPQT HKEQVQQDFS GKMQDLPEES SLEYQQEYFV
TTPGTETSET QKAMIVPSSP SKTPEEVSTP AEEEKLYLQT PTSSERGGSP IIQEPEEPSE
HREESSPRKT SLVIVESADN QPETCERLDE DAAFEKGDDM PEIPPETVTE EEYIDEHGHT
VVKKVTRKII RRYVSSEGTE KEEIMVQGMP QEPVNIEEGD GYSKVIKRVV LKSDTEQSED
NNE*
mutated AA sequence MTTMLQKSDS NASFLRAARA GNLDKVVEYL KGGIDINTCN QNGLNALHLA AKEGHVGLVQ
ELLGRGSSVD SATKKGNTAL HIASLAGQAE VVKVLVKEGA NINAQSQNGF TPLYMAAQEN
HIDVVKYLLE NGANQSTATE DGFTPLAVAL QQGHNQAVAI LLENDTKGKV RLPALHIAAR
KDDTKSAALL LQNDHNADVQ SKMMVNRTTE SGFTPLHIAA HYGNVNVATL LLNRGAAVDF
TARNGITPLH VASKRGNTNM VKLLLDRGGQ IDAKTRDGLT PLHCAARSGH DQVVELLLER
GAPLLARTKN GLSPLHMAAQ GDHVECVKHL LQHKAPVDDV TLDYLTALHV AAHCGHYRVT
KLLLDKRANP NARALNGFTP LHIACKKNRI KVMELLVKYG ASIQAITESG LTPIHVAAFM
GHLNIVLLLL QNGASPDVTN IRGETALHMA ARAGQVEVVR CLLRNGALVD ARAREEQTPL
HIASRLGKTE IVQLLLQHMA HPDAATTNGY TPLHISAREG QVDVASVLLE AGAAHSLATK
KGFTPLHVAA KYGSLDVAKL LLQRRAAADS AGKNGLTPLH VAAHYDNQKV ALLLLEKGAS
PHATAKNGYT PLHIAAKKNQ MQIASTLLNY GAETNIVTKQ GVTPLHLASQ EGHTDMVTLL
LDKGANIHMS TKSGLTSLHL AAQEDKVNVA DILTKHGADQ DAHTKLGYTP LIVACHYGNV
KMVNFLLKQG ANVNAKTKNG YTPLHQAAQQ GHTHIINVLL QHGAKPNATT ANGNTALAIA
KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD DTMTGDGGEY
LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS HASYLRDSAV
MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGRASP CLERDNSSFL
VSFMVDARGG AMRGCRHNGL RIIIPPRKCT APTRVTCRLV KRHRLATMPP MVEGEGLASR
LIEVGPSGAQ FLGKLHLPTA PPPLNEGESL VSRILQLGPP GTKFLGPVIV EIPHFAALRG
KERELVVLRS ENGDSWKEHF CDYTEDELNE ILNGMDEVLD SPEDLEKKRI CRIITRDFPQ
YFAVVSRIKQ DSNLIGPEGG VLSSTVVPQV QAVFPEGALT KRIRVGLQAQ PMHSELVKKI
LGNKATFSPI VTLEPRRRKF HKPITMTIPV PKASSDVMLN GFGGDAPTLR LLCSITGGTT
PAQWEDITGT TPLTFVNECV SFTTNVSARF WLIDCRQIQE SVTFASQVYR EIICVPYMAK
FVVFAKSHDP IEARLRCFCM TDDKVDKTLE QQENFAEVAR SRDVEVLEGK PIYVDCFGNL
VPLTKSGQHH IFSFFAFKEN RLPLFVKVRD TTQEPCGRLS FMKEPKSTRG LVHQAICNLN
ITLPIYTKES ESDQEQEEEI DMTSEKNPQD EQERIEERLA YIADHLGFSW TELARELDFT
EEQIHQIRIE NPNSLQDQSH ALLKYWLERD GKHATDTNLV ECLTKINRMD IVHLMETNTE
PLQERISHSY AEIEQTITLD HSEGFSVLQE ELCTAQHKQK EEQAVSKESE TCDHPPIVSE
EDISVGYSTF QDGVPKTEGD SSATALFPQN HKEQVQQDFS GKMQDLPEES SLEYQQEYFV
TTPGTETSET QKAMIVPSSP SKTPEEVSTP AEEEKLYLQT PTSSERGGSP IIQEPEEPSE
HREESSPRKT SLVIVESADN QPETCERLDE DAAFEKGDDM PEIPPETVTE EEYIDEHGHT
VVKKVTRKII RRYVSSEGTE KEEIMVQGMP QEPVNIEEGD GYSKVIKRVV LKSDTEQSED
NNE*
speed 0.41 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