MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000378330
Querying Taster for transcript #2: ENST00000301030
Querying Taster for transcript #3: ENST00000644285
Querying Taster for transcript #4: ENST00000642600
MT speed 0.29 s - this script 2.73884 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000301030(MANE Select)	ANKRD11	Benign	47\|53	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000378330	ANKRD11	Benign	62\|38	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000642600	ANKRD11	Benign	62\|38	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000644285	ANKRD11	Benign	131\|69	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

16:89281630G>C_2_ENST00000301030

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 47|53 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr16:89281630G>C (GRCh38)

Gene symbol

ANKRD11

Gene constraints

LOEUF: 0.13, LOF (oe): 0.09, misssense (oe): 1.05, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000301030.10

Genbank transcript ID

NM_013275 (exact from MANE), NM_001256183 (by similarity)

UniProt / AlphaMissense peptide

ANR11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4912C>G
g.208932C>G

AA changes

AAE:	P1638A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs113527563
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2628	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		1638	A	D	D	G	R	K	K	G	L	D	I	P	A	K	K	P	P	G	L	D	P	P	F	K
mutated	not conserved	1638	A	D	D	G	R	K	K	G	L	D	I	A	A	K	K	P	P	G	L	D	P	P	F
Ptroglodytes	all identical	1585	A	D	D	G	R	K	K	G	L	D	I	P	A	K	K	P	P	G	L	D	P	P	F
Mmulatta	all identical	1630	A	D	D	G	R	K	K	G	L	D	I	P	A	K	K	P	P	G	L	D	P	P	F
Fcatus	all identical	1613	A	E	D	A	R	K	K	G	L	D	V	P	A	R	R	P	L	V	P	D	P	A	P
Mmusculus	all identical	1649	T	E	D	G	R	K	K	S	L	D	F	P	S	K	K	A	L	G	L	-
Ggallus	not conserved	1674						K	R	S	L	D	L	T	A	K	K	P	L	A	L	D	T	Q	L
Trubripes	not conserved	1652	T	E	E	V	R	K	N	K	S	E	L	-	S	K	K	S	N	S	L	E	S	G	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	1653	E	K	K	A	K	E	L	N	L	T	V	S	E	N	KV	Q	P	V	V	C	N	D	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	2663	CHAIN		lost
1424	1710	REGION		lost
1609	1658	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.022	0.992
	1.034	0.693
(flanking)	-0.848	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered gDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Original cDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered cDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Wildtype AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIPAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Mutated AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIAAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Position of stopcodon in wt / mu CDS

7992 / 7992

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

2664 / 2664

Position of stopcodon in wt / mu cDNA

8453 / 8453

Position of start ATG in wt / mu cDNA

462 / 462

Last intron/exon boundary

8267

Theoretical NMD boundary in CDS

7755

Length of CDS

7992

Coding sequence (CDS) position

4912

cDNA position

5373

gDNA position

208932

Chromosomal position

89281630

Speed

0.10 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:

16:89281630G>C_1_ENST00000378330

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 62|38 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:89281630G>C (GRCh38)

Gene symbol

ANKRD11

Gene constraints

LOEUF: 0.13, LOF (oe): 0.09, misssense (oe): 1.05, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000378330.7

Genbank transcript ID

NM_001256182 (by similarity)

UniProt / AlphaMissense peptide

ANR11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4912C>G
g.208932C>G

AA changes

AAE:	P1638A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs113527563
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2628	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		1638	A	D	D	G	R	K	K	G	L	D	I	P	A	K	K	P	P	G	L	D	P	P	F	K
mutated	not conserved	1638	A	D	D	G	R	K	K	G	L	D	I	A	A	K	K	P	P	G	L	D	P	P	F
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	2663	CHAIN		lost
1424	1710	REGION		lost
1609	1658	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.022	0.992
	1.034	0.693
(flanking)	-0.848	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered gDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Original cDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered cDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Wildtype AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIPAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Mutated AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIAAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Position of stopcodon in wt / mu CDS

7992 / 7992

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

2664 / 2664

Position of stopcodon in wt / mu cDNA

8283 / 8283

Position of start ATG in wt / mu cDNA

292 / 292

Last intron/exon boundary

8097

Theoretical NMD boundary in CDS

7755

Length of CDS

7992

Coding sequence (CDS) position

4912

cDNA position

5203

gDNA position

208932

Chromosomal position

89281630

Speed

0.09 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:

16:89281630G>C_4_ENST00000642600

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 62|38 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:89281630G>C (GRCh38)

Gene symbol

ANKRD11

Gene constraints

LOEUF: 0.13, LOF (oe): 0.09, misssense (oe): 1.05, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000642600.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ANR11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4912C>G
g.208932C>G

AA changes

AAE:	P1638A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs113527563
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2628	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		1638	A	D	D	G	R	K	K	G	L	D	I	P	A	K	K	P	P	G	L	D	P	P	F	K
mutated	not conserved	1638	A	D	D	G	R	K	K	G	L	D	I	A	A	K	K	P	P	G	L	D	P	P	F
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	2663	CHAIN		lost
1424	1710	REGION		lost
1609	1658	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.022	0.992
	1.034	0.693
(flanking)	-0.848	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered gDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Original cDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered cDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Wildtype AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIPAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Mutated AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
KEKAKPADDG RKKGLDIAAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
VNEVPSFYVP MVDVNDDFVL LPA*

Position of stopcodon in wt / mu CDS

7992 / 7992

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

2664 / 2664

Position of stopcodon in wt / mu cDNA

8368 / 8368

Position of start ATG in wt / mu cDNA

377 / 377

Last intron/exon boundary

8182

Theoretical NMD boundary in CDS

7755

Length of CDS

7992

Coding sequence (CDS) position

4912

cDNA position

5288

gDNA position

208932

Chromosomal position

89281630

Speed

0.08 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:

16:89281630G>C_3_ENST00000644285

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 131|69 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:89281630G>C (GRCh38)

Gene symbol

ANKRD11

Gene constraints

LOEUF: 0.21, LOF (oe): 0.09, misssense (oe): 0.55, synonymous (oe): 1.18 ? (gnomAD)

Ensembl transcript ID

ENST00000644285.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.745-6439C>G
g.208932C>G

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	rs113527563
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	2628	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.022	0.992
	1.034	0.693
(flanking)	-0.848	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

16

Strand

-1

Original gDNA sequence snippet

GGAAGAAGGGTCTGGACATTCCTGCTAAGAAACCGCCGGGG

Altered gDNA sequence snippet

GGAAGAAGGGTCTGGACATTGCTGCTAAGAAACCGCCGGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
AANNGHYKIA PPPSLAEPLK ELFRQQEAVR GKLRLQHSIE REKLIVSCEQ EILRVHCRAA
RTIANQAVPF SACTMLLDSE VYNMPLESQG DENKSVRDRF NARQFISWLQ DVDDKYDRMK
TCLLMRQQHE AAALNAVQRM EWQLKVQELD PAGHKSLCVN EVPSFYVPMV DVNDDFVLLP
A*

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

1 / 1

Last intron/exon boundary

1080

Theoretical NMD boundary in CDS

1029

Length of CDS

1266

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

208932

Chromosomal position

89281630

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