MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000347528
Querying Taster for transcript #2: ENST00000289734
Querying Taster for transcript #3: ENST00000265709
Querying Taster for transcript #4: ENST00000705521
Querying Taster for transcript #5: ENST00000705522
MT speed 0.13 s - this script 2.542335 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000289734(MANE Select)	ANK1	Benign	22\|178	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000347528	ANK1	Benign	25\|175	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000265709	ANK1	Benign	25\|175	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000705521	ANK1	Benign	75\|125	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes
ENST00000705522	ANK1	Benign	75\|125	without_aae	Yes	Single base exchange	N/A	Heterozygous in gnomAD Splice site changes

MutationT@ster 2025

Variant:

8:41704368C>T_2_ENST00000289734

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 22|178 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41704368C>T (GRCh38)

Gene symbol

ANK1

Gene constraints

LOEUF: 0.30, LOF (oe): 0.24, misssense (oe): 0.79, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000289734.13

Genbank transcript ID

NM_000037 (exact from MANE)

UniProt / AlphaMissense peptide

ANK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2196+6G>A
g.192374G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761553
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	1155	1163

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.685	0
	0.462	0
(flanking)	-0.113	0

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	192368	wt: 8.04 / mu: 6.82	-	wt: CAAGACCAAG\|gtacaggggt mu: CAAGACCAAG\|gtacaagggt

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

-1

Original gDNA sequence snippet

AATGCCAAGACCAAGGTACAGGGGTGCCCCAGCCCCGACTC

Altered gDNA sequence snippet

AATGCCAAGACCAAGGTACAAGGGTGCCCCAGCCCCGACTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPYSVGFREA DAATSFLRAA RSGNLDKALD HLRNGVDINT CNQNGLNGLH LASKEGHVKM
VVELLHKEII LETTTKKGNT ALHIAALAGQ DEVVRELVNY GANVNAQSQK GFTPLYMAAQ
ENHLEVVKFL LENGANQNVA TEDGFTPLAV ALQQGHENVV AHLINYGTKG KVRLPALHIA
ARNDDTRTAA VLLQNDPNPD VLSKTGFTPL HIAAHYENLN VAQLLLNRGA SVNFTPQNGI
TPLHIASRRG NVIMVRLLLD RGAQIETKTK DELTPLHCAA RNGHVRISEI LLDHGAPIQA
KTKNGLSPIH MAAQGDHLDC VRLLLQYDAE IDDITLDHLT PLHVAAHCGH HRVAKVLLDK
GAKPNSRALN GFTPLHIACK KNHVRVMELL LKTGASIDAV TESGLTPLHV ASFMGHLPIV
KNLLQRGASP NVSNVKVETP LHMAARAGHT EVAKYLLQNK AKVNAKAKDD QTPLHCAARI
GHTNMVKLLL ENNANPNLAT TAGHTPLHIA AREGHVETVL ALLEKEASQA CMTKKGFTPL
HVAAKYGKVR VAELLLERDA HPNAAGKNGL TPLHVAVHHN NLDIVKLLLP RGGSPHSPAW
NGYTPLHIAA KQNQVEVARS LLQYGGSANA ESVQGVTPLH LAAQEGHAEM VALLLSKQAN
GNLGNKSGLT PLHLVAQEGH VPVADVLIKH GVMVDATTRM GYTPLHVASH YGNIKLVKFL
LQHQADVNAK TKLGYSPLHQ AAQQGHTDIV TLLLKNGASP NEVSSDGTTP LAIAKRLGYI
SVTDVLKVVT DETSFVLVSD KHRMSFPETV DEILDVSEDE GEELISFKAE RRDSRDVDEE
KELLDFVPKL DQVVESPAIP RIPCAMPETV VIRSEEQEQA SKEYDEDSLI PSSPATETSD
NISPVASPVH TGFLVSFMVD ARGGSMRGSR HNGLRVVIPP RTCAAPTRIT CRLVKPQKLS
TPPPLAEEEG LASRIIALGP TGAQFLSPVI VEIPHFASHG RGDRELVVLR SENGSVWKEH
RSRYGESYLD QILNGMDEEL GSLEELEKKR VCRIITTDFP LYFVIMSRLC QDYDTIGPEG
GSLKSKLVPL VQATFPENAV TKRVKLALQA QPVPDELVTK LLGNQATFSP IVTVEPRRRK
FHRPIGLRIP LPPSWTDNPR DSGEGDTTSL RLLCSVIGGT DQAQWEDITG TTKLVYANEC
ANFTTNVSAR FWLSDCPRTA EAVNFATLLY KELTAVPYMA KFVIFAKMND PREGRLRCYC
MTDDKVDKTL EQHENFVEVA RSRDIEVLEG MSLFAELSGN LVPVKKAAQQ RSFHFQSFRE
NRLAMPVKVR DSSREPGGSL SFLRKAMKYE DTQHILCHLN ITMPPCAKGS GAEDRRRTPT
PLALRYSILS ESTPGSLSGT EQAEMKMAVI SEHLGLSWAE LARELQFSVE DINRIRVENP
NSLLEQSVAL LNLWVIREGQ NANMENLYTA LQSIDRGEIV NMLEGSGRQS RNLKPDRRHT
DRDYSLSPSQ MNGYSSLQDE LLSPASLGCA LSSPLRADQY WNEVAVLDAI PLAATEHDTM
LEMSDMQVWS AGLTPSLVTA EDSSLECSKA EDSDATGHEW KLEGALSEEP RGPELGSLEL
VEDDTVDSDA TNGLIDLLEQ EEGQRSEEKL PGSKRQDDAT GAGQDSENEV SLVSGHQRGQ
ARITHSPTVS QVTERSQDRL QDWDADGSIV SYLQDAAQGS WQEEVTQGPH SFQGTSTMTE
GLEPGGSQEY EKVLVSVSEH TWTEQPEAES SQADRDRRQQ GQEEQVQEAK NTFTQVVQGN
EFQNIPGEQV TEEQFTDEQG NIVTKKIIRK VVRQIDLSSA DAAQEHEEVE LRGSGLQPDL
IEGRKGAQIV KRASLKRGKQ *

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

5763

Theoretical NMD boundary in CDS

5628

Length of CDS

5643

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

192374

Chromosomal position

41704368

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:41704368C>T_1_ENST00000347528

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 25|175 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41704368C>T (GRCh38)

Gene symbol

ANK1

Gene constraints

LOEUF: 0.29, LOF (oe): 0.23, misssense (oe): 0.79, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000347528.8

Genbank transcript ID

NM_020477 (by similarity), NM_020475 (by similarity), NM_020476 (by similarity)

UniProt / AlphaMissense peptide

ANK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2196+6G>A
g.192374G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761553
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	1155	1163

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.685	0
	0.462	0
(flanking)	-0.113	0

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	192368	wt: 8.04 / mu: 6.82	-	wt: CAAGACCAAG\|gtacaggggt mu: CAAGACCAAG\|gtacaagggt

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

-1

Original gDNA sequence snippet

AATGCCAAGACCAAGGTACAGGGGTGCCCCAGCCCCGACTC

Altered gDNA sequence snippet

AATGCCAAGACCAAGGTACAAGGGTGCCCCAGCCCCGACTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPYSVGFREA DAATSFLRAA RSGNLDKALD HLRNGVDINT CNQNGLNGLH LASKEGHVKM
VVELLHKEII LETTTKKGNT ALHIAALAGQ DEVVRELVNY GANVNAQSQK GFTPLYMAAQ
ENHLEVVKFL LENGANQNVA TEDGFTPLAV ALQQGHENVV AHLINYGTKG KVRLPALHIA
ARNDDTRTAA VLLQNDPNPD VLSKTGFTPL HIAAHYENLN VAQLLLNRGA SVNFTPQNGI
TPLHIASRRG NVIMVRLLLD RGAQIETKTK DELTPLHCAA RNGHVRISEI LLDHGAPIQA
KTKNGLSPIH MAAQGDHLDC VRLLLQYDAE IDDITLDHLT PLHVAAHCGH HRVAKVLLDK
GAKPNSRALN GFTPLHIACK KNHVRVMELL LKTGASIDAV TESGLTPLHV ASFMGHLPIV
KNLLQRGASP NVSNVKVETP LHMAARAGHT EVAKYLLQNK AKVNAKAKDD QTPLHCAARI
GHTNMVKLLL ENNANPNLAT TAGHTPLHIA AREGHVETVL ALLEKEASQA CMTKKGFTPL
HVAAKYGKVR VAELLLERDA HPNAAGKNGL TPLHVAVHHN NLDIVKLLLP RGGSPHSPAW
NGYTPLHIAA KQNQVEVARS LLQYGGSANA ESVQGVTPLH LAAQEGHAEM VALLLSKQAN
GNLGNKSGLT PLHLVAQEGH VPVADVLIKH GVMVDATTRM GYTPLHVASH YGNIKLVKFL
LQHQADVNAK TKLGYSPLHQ AAQQGHTDIV TLLLKNGASP NEVSSDGTTP LAIAKRLGYI
SVTDVLKVVT DETSFVLVSD KHRMSFPETV DEILDVSEDE GEELISFKAE RRDSRDVDEE
KELLDFVPKL DQVVESPAIP RIPCAMPETV VIRSEEQEQA SKEYDEDSLI PSSPATETSD
NISPVASPVH TGFLVSFMVD ARGGSMRGSR HNGLRVVIPP RTCAAPTRIT CRLVKPQKLS
TPPPLAEEEG LASRIIALGP TGAQFLSPVI VEIPHFASHG RGDRELVVLR SENGSVWKEH
RSRYGESYLD QILNGMDEEL GSLEELEKKR VCRIITTDFP LYFVIMSRLC QDYDTIGPEG
GSLKSKLVPL VQATFPENAV TKRVKLALQA QPVPDELVTK LLGNQATFSP IVTVEPRRRK
FHRPIGLRIP LPPSWTDNPR DSGEGDTTSL RLLCSVIGGT DQAQWEDITG TTKLVYANEC
ANFTTNVSAR FWLSDCPRTA EAVNFATLLY KELTAVPYMA KFVIFAKMND PREGRLRCYC
MTDDKVDKTL EQHENFVEVA RSRDIEVLEG MSLFAELSGN LVPVKKAAQQ RSFHFQSFRE
NRLAMPVKVR DSSREPGGSL SFLRKAMKYE DTQHILCHLN ITMPPCAKGS GAEDRRRTPT
PLALRYSILS ESTPGSLSGT EQAEMKMAVI SEHLGLSWAE LARELQFSVE DINRIRVENP
NSLLEQSVAL LNLWVIREGQ NANMENLYTA LQSIDRGEIV NMLEGSGRQS RNLKPDRRHT
DRDYSLSPSQ MNGYSSLQDE LLSPASLGCA LSSPLRADQY WNEVAVLDAI PLAATEHDTM
LEMSDMQVWS AGLTPSLVTA EDSSLECSKA EDSDATGHEW KLEGALSEEP RGPELGSLEL
VEDDTVDSDA TNGLIDLLEQ EEGQRSEEKL PGSKRQDDAT GAGQDSENEV SLVSGHQRGQ
ARITHSPTVS QVTERSQDRL QDWDADGSIV SYLQDAAQGS WQEEVTQGPH SFQGTSTMTE
GLEPGGSQEY EKVLVSVSEH TWTEQPEAES SQADRDRRQQ GQEEQVQEAK NTFTQVVQGN
EFQNIPGEQV TEEQFTDEQG NIVTKKIIRK VVRQIDLSSA DAAQEHEEVT VEGPLEDPSE
LEVDIDYFMK HSKDHTSTPN P*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

5703

Theoretical NMD boundary in CDS

5568

Length of CDS

5646

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

192374

Chromosomal position

41704368

Speed

0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:41704368C>T_3_ENST00000265709

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 25|175 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41704368C>T (GRCh38)

Gene symbol

ANK1

Gene constraints

LOEUF: 0.30, LOF (oe): 0.24, misssense (oe): 0.79, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000265709.14

Genbank transcript ID

NM_001142446 (by similarity)

UniProt / AlphaMissense peptide

ANK1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2295+6G>A
g.192374G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761553
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	1155	1163

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.685	0
	0.462	0
(flanking)	-0.113	0

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	192368	wt: 8.04 / mu: 6.82	-	wt: CAAGACCAAG\|gtacaggggt mu: CAAGACCAAG\|gtacaagggt

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

-1

Original gDNA sequence snippet

AATGCCAAGACCAAGGTACAGGGGTGCCCCAGCCCCGACTC

Altered gDNA sequence snippet

AATGCCAAGACCAAGGTACAAGGGTGCCCCAGCCCCGACTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAQAAKQLKK IKDIEAQALQ EQKEKEESNR KRRNRSRDRK KKADAATSFL RAARSGNLDK
ALDHLRNGVD INTCNQNGLN GLHLASKEGH VKMVVELLHK EIILETTTKK GNTALHIAAL
AGQDEVVREL VNYGANVNAQ SQKGFTPLYM AAQENHLEVV KFLLENGANQ NVATEDGFTP
LAVALQQGHE NVVAHLINYG TKGKVRLPAL HIAARNDDTR TAAVLLQNDP NPDVLSKTGF
TPLHIAAHYE NLNVAQLLLN RGASVNFTPQ NGITPLHIAS RRGNVIMVRL LLDRGAQIET
KTKDELTPLH CAARNGHVRI SEILLDHGAP IQAKTKNGLS PIHMAAQGDH LDCVRLLLQY
DAEIDDITLD HLTPLHVAAH CGHHRVAKVL LDKGAKPNSR ALNGFTPLHI ACKKNHVRVM
ELLLKTGASI DAVTESGLTP LHVASFMGHL PIVKNLLQRG ASPNVSNVKV ETPLHMAARA
GHTEVAKYLL QNKAKVNAKA KDDQTPLHCA ARIGHTNMVK LLLENNANPN LATTAGHTPL
HIAAREGHVE TVLALLEKEA SQACMTKKGF TPLHVAAKYG KVRVAELLLE RDAHPNAAGK
NGLTPLHVAV HHNNLDIVKL LLPRGGSPHS PAWNGYTPLH IAAKQNQVEV ARSLLQYGGS
ANAESVQGVT PLHLAAQEGH AEMVALLLSK QANGNLGNKS GLTPLHLVAQ EGHVPVADVL
IKHGVMVDAT TRMGYTPLHV ASHYGNIKLV KFLLQHQADV NAKTKLGYSP LHQAAQQGHT
DIVTLLLKNG ASPNEVSSDG TTPLAIAKRL GYISVTDVLK VVTDETSFVL VSDKHRMSFP
ETVDEILDVS EDEGTAHITI MGEELISFKA ERRDSRDVDE EKELLDFVPK LDQVVESPAI
PRIPCAMPET VVIRSEEQEQ ASKEYDEDSL IPSSPATETS DNISPVASPV HTGFLVSFMV
DARGGSMRGS RHNGLRVVIP PRTCAAPTRI TCRLVKPQKL STPPPLAEEE GLASRIIALG
PTGAQFLSPV IVEIPHFASH GRGDRELVVL RSENGSVWKE HRSRYGESYL DQILNGMDEE
LGSLEELEKK RVCRIITTDF PLYFVIMSRL CQDYDTIGPE GGSLKSKLVP LVQATFPENA
VTKRVKLALQ AQPVPDELVT KLLGNQATFS PIVTVEPRRR KFHRPIGLRI PLPPSWTDNP
RDSGEGDTTS LRLLCSVIGG TDQAQWEDIT GTTKLVYANE CANFTTNVSA RFWLSDCPRT
AEAVNFATLL YKELTAVPYM AKFVIFAKMN DPREGRLRCY CMTDDKVDKT LEQHENFVEV
ARSRDIEVLE GMSLFAELSG NLVPVKKAAQ QRSFHFQSFR ENRLAMPVKV RDSSREPGGS
LSFLRKAMKY EDTQHILCHL NITMPPCAKG SGAEDRRRTP TPLALRYSIL SESTPGSLSG
TEQAEMKMAV ISEHLGLSWA ELARELQFSV EDINRIRVEN PNSLLEQSVA LLNLWVIREG
QNANMENLYT ALQSIDRGEI VNMLEGSGRQ SRNLKPDRRH TDRDYSLSPS QMNGYSSLQD
ELLSPASLGC ALSSPLRADQ YWNEVAVLDA IPLAATEHDT MLEMSDMQVW SAGLTPSLVT
AEDSSLECSK AEDSDATGHE WKLEGALSEE PRGPELGSLE LVEDDTVDSD ATNGLIDLLE
QEEGQRSEEK LPGSKRQDDA TGAGQDSENE VSLVSGHQRG QARITHSPTV SQVTERSQDR
LQDWDADGSI VSYLQDAAQG SWQEEVTQGP HSFQGTSTMT EGLEPGGSQE YEKVLVSVSE
HTWTEQPEAE SSQADRDRRQ QGQEEQVQEA KNTFTQVVQG NEFQNIPGEQ VTEEQFTDEQ
GNIVTKKIIR KVVRQIDLSS ADAAQEHEED HTSTPNP*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

262 / 262

Last intron/exon boundary

5928

Theoretical NMD boundary in CDS

5616

Length of CDS

5694

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

192374

Chromosomal position

41704368

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:41704368C>T_4_ENST00000705521

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 75|125 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41704368C>T (GRCh38)

Gene symbol

ANK1

Gene constraints

no data

Ensembl transcript ID

ENST00000705521.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2391+6G>A
g.192374G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761553
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	1155	1163

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.685	0
	0.462	0
(flanking)	-0.113	0

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	192368	wt: 8.04 / mu: 6.82	-	wt: CAAGACCAAG\|gtacaggggt mu: CAAGACCAAG\|gtacaagggt

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

-1

Original gDNA sequence snippet

AATGCCAAGACCAAGGTACAGGGGTGCCCCAGCCCCGACTC

Altered gDNA sequence snippet

AATGCCAAGACCAAGGTACAAGGGTGCCCCAGCCCCGACTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAQAAKQLKK IKDIEAQALQ EQKEKEESNR KRRNRSRDRK KKADAATSFL RAARSGNLDK
ALDHLRNGVD INTCNQGPSA SAVDLLLRCR ISQSTGLLRV LYNQNRKKNG LNGLHLASKE
GHVKMVVELL HKEIILETTT KKGNTALHIA ALAGQDEVVR ELVNYGANVN AQSQKGFTPL
YMAAQENHLE VVKFLLENGA NQNVATEDGF TPLAVALQQG HENVVAHLIN YGTKGKVRLP
ALHIAARNDD TRTAAVLLQN DPNPDVLSKT GFTPLHIAAH YENLNVAQLL LNRGASVNFT
PQNGITPLHI ASRRGNVIMV RLLLDRGAQI ETKTKDELTP LHCAARNGHV RISEILLDHG
APIQAKTKNG LSPIHMAAQG DHLDCVRLLL QYDAEIDDIT LDHLTPLHVA AHCGHHRVAK
VLLDKGAKPN SRALNGFTPL HIACKKNHVR VMELLLKTGA SIDAVTESGL TPLHVASFMG
HLPIVKNLLQ RGASPNVSNV KVETPLHMAA RAGHTEVAKY LLQNKAKVNA KAKDDQTPLH
CAARIGHTNM VKLLLENNAN PNLATTAGHT PLHIAAREGH VETVLALLEK EASQACMTKK
GFTPLHVAAK YGKVRVAELL LERDAHPNAA GKNGLTPLHV AVHHNNLDIV KLLLPRGGSP
HSPAWNGYTP LHIAAKQNQV EVARSLLQYG GSANAESVQG VTPLHLAAQE GHAEMVALLL
SKQANGNLGN KSGLTPLHLV AQEGHVPVAD VLIKHGVMVD ATTRMGYTPL HVASHYGNIK
LVKFLLQHQA DVNAKTKLGY SPLHQAAQQG HTDIVTLLLK NGASPNEVSS DGTTPLAIAK
RLGYISVTDV LKVVTDETSF VLVSDKHRMS FPETVDEILD VSEDEGTAHI TIMGEELISF
KAERRDSRDV DEEKELLDFV PKLDQVVESP AIPRIPCAMP ETVVIRSEEQ EQASKEYDED
SLIPSSPATE TSDNISPVAS PVHTGFLVSF MVDARGGSMR GSRHNGLRVV IPPRTCAAPT
RITCRLVKPQ KLSTPPPLAE EEGLASRIIA LGPTGAQFLS PVIVEIPHFA SHGRGDRELV
VLRSENGSVW KEHRSRYGES YLDQILNGMD EELGSLEELE KKRVCRIITT DFPLYFVIMS
RLCQDYDTIG PEGGSLKSKL VPLVQATFPE NAVTKRVKLA LQAQPVPDEL VTKLLGNQAT
FSPIVTVEPR RRKFHRPIGL RIPLPPSWTD NPRDSGEGDT TSLRLLCSVI GGTDQAQWED
ITGTTKLVYA NECANFTTNV SARFWLSDCP RTAEAVNFAT LLYKELTAVP YMAKFVIFAK
MNDPREGRLR CYCMTDDKVD KTLEQHENFV EVARSRDIEV LEGMSLFAEL SGNLVPVKKA
AQQRSFHFQS FRENRLAMPV KVRDSSREPG GSLSFLRKAM KYEDTQHILC HLNITMPPCA
KGSGAEDRRR TPTPLALRYS ILSESTPGSL SGTEQAEMKM AVISEHLGLS WAELARELQF
SVEDINRIRV ENPNSLLEQS VALLNLWVIR EGQNANMENL YTALQSIDRG EIVNMLEGSG
RQSRNLKPDR RHTDRDYSLS PSQMNGYSSL QDELLSPASL GCALSSPLRA DQYWNEVAVL
DAIPLAATEH DTMLEMSDMQ VWSAGLTPSL VTAEDSSLEC SKAEDSDATG HEWKLEGALS
EEPRGPELGS LELVEDDTVD SDATNGLIDL LEQEEGQRSE EKLPGSKRQD DATGAGQDSE
NEVSLVSGHQ RGQARITHSP TVSQVTERSQ DRLQDWDADG SIVSYLQDAA QGSWQEEVTQ
GPHSFQGTST MTEGLEPGGS QEYEKVLVSV SEHTWTEQPE AESSQADRDR RQQGQEEQVQ
EAKNTFTQVV QGNEFQNIPG EQVTEEQFTD EQGNIVTKKI IRKVVRQIDL SSADAAQEHE
EVELRGSGLQ PDLIEGRKGA QIVKRASLKR GKQ*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

53 / 53

Last intron/exon boundary

5950

Theoretical NMD boundary in CDS

5847

Length of CDS

5862

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

192374

Chromosomal position

41704368

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

8:41704368C>T_5_ENST00000705522

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD
Splice site changes

Model: without_aae
Tree vote: 75|125 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:41704368C>T (GRCh38)

Gene symbol

ANK1

Gene constraints

no data

Ensembl transcript ID

ENST00000705522.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2208+6G>A
g.192374G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761553
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	8	1155	1163

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.685	0
	0.462	0
(flanking)	-0.113	0

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	192368	wt: 8.04 / mu: 6.82	-	wt: CAAGACCAAG\|gtacaggggt mu: CAAGACCAAG\|gtacaagggt

Distance from splice site

6

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

-1

Original gDNA sequence snippet

AATGCCAAGACCAAGGTACAGGGGTGCCCCAGCCCCGACTC

Altered gDNA sequence snippet

AATGCCAAGACCAAGGTACAAGGGTGCCCCAGCCCCGACTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAARQGRSGP DPAADAATSF LRAARSGNLD KALDHLRNGV DINTCNQNGL NGLHLASKEG
HVKMVVELLH KEIILETTTK KGNTALHIAA LAGQDEVVRE LVNYGANVNA QSQKGFTPLY
MAAQENHLEV VKFLLENGAN QNVATEDGFT PLAVALQQGH ENVVAHLINY GTKGKVRLPA
LHIAARNDDT RTAAVLLQND PNPDVLSKTG FTPLHIAAHY ENLNVAQLLL NRGASVNFTP
QNGITPLHIA SRRGNVIMVR LLLDRGAQIE TKTKDELTPL HCAARNGHVR ISEILLDHGA
PIQAKTKNGL SPIHMAAQGD HLDCVRLLLQ YDAEIDDITL DHLTPLHVAA HCGHHRVAKV
LLDKGAKPNS RALNGFTPLH IACKKNHVRV MELLLKTGAS IDAVTESGLT PLHVASFMGH
LPIVKNLLQR GASPNVSNVK VETPLHMAAR AGHTEVAKYL LQNKAKVNAK AKDDQTPLHC
AARIGHTNMV KLLLENNANP NLATTAGHTP LHIAAREGHV ETVLALLEKE ASQACMTKKG
FTPLHVAAKY GKVRVAELLL ERDAHPNAAG KNGLTPLHVA VHHNNLDIVK LLLPRGGSPH
SPAWNGYTPL HIAAKQNQVE VARSLLQYGG SANAESVQGV TPLHLAAQEG HAEMVALLLS
KQANGNLGNK SGLTPLHLVA QEGHVPVADV LIKHGVMVDA TTRMGYTPLH VASHYGNIKL
VKFLLQHQAD VNAKTKLGYS PLHQAAQQGH TDIVTLLLKN GASPNEVSSD GTTPLAIAKR
LGYISVTDVL KVVTDETSFV LVSDKHRMSF PETVDEILDV SEDEGTAHIT IMGEELISFK
AERRDSRDVD EEKELLDFVP KLDQVVESPA IPRIPCAMPE TVVIRSEEQE QASKEYDEDS
LIPSSPATET SDNISPVASP VHTGFLVSFM VDARGGSMRG SRHNGLRVVI PPRTCAAPTR
ITCRLVKPQK LSTPPPLAEE EGLASRIIAL GPTGAQFLSP VIVEIPHFAS HGRGDRELVV
LRSENGSVWK EHRSRYGESY LDQILNGMDE ELGSLEELEK KRVCRIITTD FPLYFVIMSR
LCQDYDTIGP EGGSLKSKLV PLVQATFPEN AVTKRVKLAL QAQPVPDELV TKLLGNQATF
SPIVTVEPRR RKFHRPIGLR IPLPPSWTDN PRDSGEGDTT SLRLLCSVIG GTDQAQWEDI
TGTTKLVYAN ECANFTTNVS ARFWLSDCPR TAEAVNFATL LYKELTAVPY MAKFVIFAKM
NDPREGRLRC YCMTDDKVDK TLEQHENFVE VARSRDIEVL EGMSLFAELS GNLVPVKKAA
QQRSFHFQSF RENRLAMPVK VRDSSREPGG SLSFLRKAMK YEDTQHILCH LNITMPPCAK
GSGAEDRRRT PTPLALRYSI LSESTPGSLS GTEQAEMKMA VISEHLGLSW AELARELQFS
VEDINRIRVE NPNSLLEQSV ALLNLWVIRE GQNANMENLY TALQSIDRGE IVNMLEGSGR
QSRNLKPDRR HTDRDYSLSP SQMNGYSSLQ DELLSPASLG CALSSPLRAD QYWNEVAVLD
AIPLAATEHD TMLEMSDMQV WSAGLTPSLV TAEDSSLECS KAEDSDATGH EWKLEGALSE
EPRGPELGSL ELVEDDTVDS DATNGLIDLL EQEEGQRSEE KLPGSKRQDD ATGAGQDSEN
EVSLVSGHQR GQARITHSPT VSQVTERSQD RLQDWDADGS IVSYLQDAAQ GSWQEEVTQG
PHSFQGTSTM TEGLEPGGSQ EYEKVLVSVS EHTWTEQPEA ESSQADRDRR QQGQEEQVQE
AKNTFTQVVQ IIRKVVRQID LSSADAAQEH EEVTVEGPLE DPSELEDHTS TPNP*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

98 / 98

Last intron/exon boundary

5635

Theoretical NMD boundary in CDS

5487

Length of CDS

5565

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

192374

Chromosomal position

41704368

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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