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: ENST00000371602
Querying Taster for transcript #2: ENST00000621696
Querying Taster for transcript #3: ENST00000673732
Querying Taster for transcript #4: ENST00000644386
Querying Taster for transcript #5: ENST00000396029
Querying Taster for transcript #6: ENST00000396032
Querying Taster for transcript #7: ENST00000349014
Querying Taster for transcript #8: ENST00000645081
MT speed 1.76 s - this script 4.230457 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000621696(MANE Select)	ADNP	Deleterious	71\|29	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000645081	ADNP	Deleterious	72\|28	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000673732	ADNP	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000371602	ADNP	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000396029	ADNP	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000396032	ADNP	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000349014	ADNP	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000644386	ADNP	Deleterious	185\|15	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

20:50892316T>C_2_ENST00000621696

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 71|29 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000621696.5

Genbank transcript ID

NM_001282531 (exact from MANE), NM_001347511 (by similarity)

UniProt / AlphaMissense peptide

ADNP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2398A>G
g.39122A>G

AA changes

AAE:	I800V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	800	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
Ptroglodytes	all identical	800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C
Mmulatta	all identical	820	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C
Fcatus	all identical	800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C
Mmusculus	all identical	799	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C
Ggallus	all identical	918	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C
Trubripes	all identical	835	L	A	A	S	L	W	L	W	K	S	D	I	T	S	H	F	L	N	K	R	R
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	802	L	A	A	S	L	W	L	W	K	N	D	I	A	S	H	F	S	N	K	R	K	K	C

Protein features

Start (aa)	End (aa)	Feature	Details
1	1102	CHAIN		lost
754	814	DNA_BIND	Homeobox	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Mutated AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDV ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Position of stopcodon in wt / mu CDS

3309 / 3309

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

1103 / 1103

Position of stopcodon in wt / mu cDNA

4185 / 4185

Position of start ATG in wt / mu cDNA

877 / 877

Last intron/exon boundary

1077

Theoretical NMD boundary in CDS

150

Length of CDS

3309

Coding sequence (CDS) position

2398

cDNA position

3274

gDNA position

39122

Chromosomal position

50892316

Speed

0.22 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:

20:50892316T>C_8_ENST00000645081

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 72|28 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.14, LOF (oe): 0.06, misssense (oe): 0.88, synonymous (oe): 1.18 ? (gnomAD)

Ensembl transcript ID

ENST00000645081.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1714A>G
g.39122A>G

AA changes

AAE:	I572V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		572	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	572	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MPKSYEALVQ HVIEDHERIG YQVTAMIGHT NVVVPRSKPL MLIAPKPQDK KSMGLPPRIG
SLASGNVRSL PSQQMVNRLS IPKPNLNSTG VNMMSSVHLQ QNNYGVKSVG QGYSVGQSMR
LGLGGNAPVS IPQQSQSVKQ LLPSGNGRSY GLGSEQRSQA PARYSLQSAN ASSLSSGQLK
SPSLSQSQAS RVLGQSSSKP AAAATGPPPG NTSSTQKWKI CTICNELFPE NVYSVHFEKE
HKAEKVPAVA NYIMKIHNFT SKCLYCNRYL PTDTLLNHML IHGLSCPYCR STFNDVEKMA
AHMRMVHIDE EMGPKTDSTL SFDLTLQQGS HTNIHLLVTT YNLRDAPAES VAYHAQNNPP
VPPKPQPKVQ EKADIPVKSS PQAAVPYKKD VGKTLCPLCF SILKGPISDA LAHHLRERHQ
VIQTVHPVEK KLTYKCIHCL GVYTSNMTAS TITLHLVHCR GVGKTQNGQD KTNAPSRLNQ
SPSLAPVKRT YEQMEFPLLK KRKLDDDSDS PSFFEEKPEE PVVLALDPKG HEDDSYEARK
SFLTKYFNKQ PYPTRREIEK LAASLWLWKS DIASHFSNKR KKCVRDCEKY KPGVLLGFNM
KELNKVKHEM DFDAEWLFEN HDEKDSRVNA SKTADKKLNL GKEDDSSSDS FENLEEESNE
SGSPFDPVFE VEPKISNDNP EEHVLKVIPE DASESEEKLD QKEDGSKYET IHLTEEPTKL
MHNASDSEVD QDDVVEWKDG ASPSESGPGS QQVSDFEDNT CEMKPGTWSD ESSQSEDARS
SKPAAKKKAT MQGDREQLKW KNSSYGKVEG FWSKDQSQWK NASENDERLS NPQIEWQNST
IDSEDGEQFD NMTDGVAEPM HGSLAGVKLS SQQA*

Mutated AA sequence

MPKSYEALVQ HVIEDHERIG YQVTAMIGHT NVVVPRSKPL MLIAPKPQDK KSMGLPPRIG
SLASGNVRSL PSQQMVNRLS IPKPNLNSTG VNMMSSVHLQ QNNYGVKSVG QGYSVGQSMR
LGLGGNAPVS IPQQSQSVKQ LLPSGNGRSY GLGSEQRSQA PARYSLQSAN ASSLSSGQLK
SPSLSQSQAS RVLGQSSSKP AAAATGPPPG NTSSTQKWKI CTICNELFPE NVYSVHFEKE
HKAEKVPAVA NYIMKIHNFT SKCLYCNRYL PTDTLLNHML IHGLSCPYCR STFNDVEKMA
AHMRMVHIDE EMGPKTDSTL SFDLTLQQGS HTNIHLLVTT YNLRDAPAES VAYHAQNNPP
VPPKPQPKVQ EKADIPVKSS PQAAVPYKKD VGKTLCPLCF SILKGPISDA LAHHLRERHQ
VIQTVHPVEK KLTYKCIHCL GVYTSNMTAS TITLHLVHCR GVGKTQNGQD KTNAPSRLNQ
SPSLAPVKRT YEQMEFPLLK KRKLDDDSDS PSFFEEKPEE PVVLALDPKG HEDDSYEARK
SFLTKYFNKQ PYPTRREIEK LAASLWLWKS DVASHFSNKR KKCVRDCEKY KPGVLLGFNM
KELNKVKHEM DFDAEWLFEN HDEKDSRVNA SKTADKKLNL GKEDDSSSDS FENLEEESNE
SGSPFDPVFE VEPKISNDNP EEHVLKVIPE DASESEEKLD QKEDGSKYET IHLTEEPTKL
MHNASDSEVD QDDVVEWKDG ASPSESGPGS QQVSDFEDNT CEMKPGTWSD ESSQSEDARS
SKPAAKKKAT MQGDREQLKW KNSSYGKVEG FWSKDQSQWK NASENDERLS NPQIEWQNST
IDSEDGEQFD NMTDGVAEPM HGSLAGVKLS SQQA*

Position of stopcodon in wt / mu CDS

2625 / 2625

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

875 / 875

Position of stopcodon in wt / mu cDNA

3740 / 3740

Position of start ATG in wt / mu cDNA

1116 / 1116

Last intron/exon boundary

632

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

2625

Coding sequence (CDS) position

1714

cDNA position

2829

gDNA position

39122

Chromosomal position

50892316

Speed

0.35 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:

20:50892316T>C_3_ENST00000673732

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000673732.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2614A>G
g.39122A>G

AA changes

AAE:	I872V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		872	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	872	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MHNAKPRPQL LHHDAQGCTF CTELIGGLVV MPCTTILRIW TPFPALLFGP HCQFTPDLSS
CSSTFVAETE ETMFQLPVNN LGSLRKARKT VKKILSDIGL EYCKEHIEDF KQFEPNDFYL
KNTTWEDVGL WDPSLTKNQD YRTKPFCCSA CPFSSKFFSA YKSHFRNVHS EDFENRILLN
CPYCTFNADK KTLETHIKIF HAPNASAPSS SLSTFKDKNK NDGLKPKQAD SVEQAVYYCK
KCTYRDPLYE IVRKHIYREH FQHVAAPYIA KAGEKSLNGA VPLGSNAREE SSIHCKRCLF
MPKSYEALVQ HVIEDHERIG YQVTAMIGHT NVVVPRSKPL MLIAPKPQDK KSMGLPPRIG
SLASGNVRSL PSQQMVNRLS IPKPNLNSTG VNMMSSVHLQ QNNYGVKSVG QGYSVGQSMR
LGLGGNAPVS IPQQSQSVKQ LLPSGNGRSY GLGSEQRSQA PARYSLQSAN ASSLSSGQLK
SPSLSQSQAS RVLGQSSSKP AAAATGPPPG NTSSTQKWKI CTICNELFPE NVYSVHFEKE
HKAEKVPAVA NYIMKIHNFT SKCLYCNRYL PTDTLLNHML IHGLSCPYCR STFNDVEKMA
AHMRMVHIDE EMGPKTDSTL SFDLTLQQGS HTNIHLLVTT YNLRDAPAES VAYHAQNNPP
VPPKPQPKVQ EKADIPVKSS PQAAVPYKKD VGKTLCPLCF SILKGPISDA LAHHLRERHQ
VIQTVHPVEK KLTYKCIHCL GVYTSNMTAS TITLHLVHCR GVGKTQNGQD KTNAPSRLNQ
SPSLAPVKRT YEQMEFPLLK KRKLDDDSDS PSFFEEKPEE PVVLALDPKG HEDDSYEARK
SFLTKYFNKQ PYPTRREIEK LAASLWLWKS DIASHFSNKR KKCVRDCEKY KPGVLLGFNM
KELNKVKHEM DFDAEWLFEN HDEKDSRVNA SKTADKKLNL GKEDDSSSDS FENLEEESNE
SGSPFDPVFE VEPKISNDNP EEHVLKVIPE DASESEEKLD QKEDGSKYET IHLTEEPTKL
MHNASDSEVD QDDVVEWKDG ASPSESGPGS QQVSDFEDNT CEMKPGTWSD ESSQSEDARS
SKPAAKKKAT MQGDREQLKW KNSSYGKVEG FWSKDQSQWK NASENDERLS NPQIEWQNST
IDSEDGEQFD NMTDGVAEPM HGSLAGVKLS SQQA*

Mutated AA sequence

MHNAKPRPQL LHHDAQGCTF CTELIGGLVV MPCTTILRIW TPFPALLFGP HCQFTPDLSS
CSSTFVAETE ETMFQLPVNN LGSLRKARKT VKKILSDIGL EYCKEHIEDF KQFEPNDFYL
KNTTWEDVGL WDPSLTKNQD YRTKPFCCSA CPFSSKFFSA YKSHFRNVHS EDFENRILLN
CPYCTFNADK KTLETHIKIF HAPNASAPSS SLSTFKDKNK NDGLKPKQAD SVEQAVYYCK
KCTYRDPLYE IVRKHIYREH FQHVAAPYIA KAGEKSLNGA VPLGSNAREE SSIHCKRCLF
MPKSYEALVQ HVIEDHERIG YQVTAMIGHT NVVVPRSKPL MLIAPKPQDK KSMGLPPRIG
SLASGNVRSL PSQQMVNRLS IPKPNLNSTG VNMMSSVHLQ QNNYGVKSVG QGYSVGQSMR
LGLGGNAPVS IPQQSQSVKQ LLPSGNGRSY GLGSEQRSQA PARYSLQSAN ASSLSSGQLK
SPSLSQSQAS RVLGQSSSKP AAAATGPPPG NTSSTQKWKI CTICNELFPE NVYSVHFEKE
HKAEKVPAVA NYIMKIHNFT SKCLYCNRYL PTDTLLNHML IHGLSCPYCR STFNDVEKMA
AHMRMVHIDE EMGPKTDSTL SFDLTLQQGS HTNIHLLVTT YNLRDAPAES VAYHAQNNPP
VPPKPQPKVQ EKADIPVKSS PQAAVPYKKD VGKTLCPLCF SILKGPISDA LAHHLRERHQ
VIQTVHPVEK KLTYKCIHCL GVYTSNMTAS TITLHLVHCR GVGKTQNGQD KTNAPSRLNQ
SPSLAPVKRT YEQMEFPLLK KRKLDDDSDS PSFFEEKPEE PVVLALDPKG HEDDSYEARK
SFLTKYFNKQ PYPTRREIEK LAASLWLWKS DVASHFSNKR KKCVRDCEKY KPGVLLGFNM
KELNKVKHEM DFDAEWLFEN HDEKDSRVNA SKTADKKLNL GKEDDSSSDS FENLEEESNE
SGSPFDPVFE VEPKISNDNP EEHVLKVIPE DASESEEKLD QKEDGSKYET IHLTEEPTKL
MHNASDSEVD QDDVVEWKDG ASPSESGPGS QQVSDFEDNT CEMKPGTWSD ESSQSEDARS
SKPAAKKKAT MQGDREQLKW KNSSYGKVEG FWSKDQSQWK NASENDERLS NPQIEWQNST
IDSEDGEQFD NMTDGVAEPM HGSLAGVKLS SQQA*

Position of stopcodon in wt / mu CDS

3525 / 3525

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

1175 / 1175

Position of stopcodon in wt / mu cDNA

4144 / 4144

Position of start ATG in wt / mu cDNA

620 / 620

Last intron/exon boundary

1036

Theoretical NMD boundary in CDS

366

Length of CDS

3525

Coding sequence (CDS) position

2614

cDNA position

3233

gDNA position

39122

Chromosomal position

50892316

Speed

0.23 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:

20:50892316T>C_1_ENST00000371602

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000371602.9

Genbank transcript ID

UniProt / AlphaMissense peptide

ADNP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2398A>G
g.39122A>G

AA changes

AAE:	I800V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	800	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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	1102	CHAIN		lost
754	814	DNA_BIND	Homeobox	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Mutated AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDV ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Position of stopcodon in wt / mu CDS

3309 / 3309

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

1103 / 1103

Position of stopcodon in wt / mu cDNA

4871 / 4871

Position of start ATG in wt / mu cDNA

1563 / 1563

Last intron/exon boundary

1763

Theoretical NMD boundary in CDS

150

Length of CDS

3309

Coding sequence (CDS) position

2398

cDNA position

3960

gDNA position

39122

Chromosomal position

50892316

Speed

0.18 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:

20:50892316T>C_5_ENST00000396029

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000396029.8

Genbank transcript ID

NM_015339 (by similarity)

UniProt / AlphaMissense peptide

ADNP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2398A>G
g.39122A>G

AA changes

AAE:	I800V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	800	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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	1102	CHAIN		lost
754	814	DNA_BIND	Homeobox	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Mutated AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDV ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Position of stopcodon in wt / mu CDS

3309 / 3309

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

1103 / 1103

Position of stopcodon in wt / mu cDNA

4039 / 4039

Position of start ATG in wt / mu cDNA

731 / 731

Last intron/exon boundary

931

Theoretical NMD boundary in CDS

150

Length of CDS

3309

Coding sequence (CDS) position

2398

cDNA position

3128

gDNA position

39122

Chromosomal position

50892316

Speed

0.43 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:

20:50892316T>C_6_ENST00000396032

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000396032.8

Genbank transcript ID

NM_181442 (by similarity)

UniProt / AlphaMissense peptide

ADNP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2398A>G
g.39122A>G

AA changes

AAE:	I800V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	800	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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	1102	CHAIN		lost
754	814	DNA_BIND	Homeobox	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Mutated AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDV ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Position of stopcodon in wt / mu CDS

3309 / 3309

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

1103 / 1103

Position of stopcodon in wt / mu cDNA

3910 / 3910

Position of start ATG in wt / mu cDNA

602 / 602

Last intron/exon boundary

802

Theoretical NMD boundary in CDS

150

Length of CDS

3309

Coding sequence (CDS) position

2398

cDNA position

2999

gDNA position

39122

Chromosomal position

50892316

Speed

0.12 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:

20:50892316T>C_7_ENST00000349014

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.11, LOF (oe): 0.05, misssense (oe): 0.81, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000349014.8

Genbank transcript ID

NM_001282532 (by similarity)

UniProt / AlphaMissense peptide

ADNP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2398A>G
g.39122A>G

AA changes

AAE:	I800V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		800	L	A	A	S	L	W	L	W	K	S	D	I	A	S	H	F	S	N	K	R	K	K	C	V
mutated	all conserved	800	L	A	A	S	L	W	L	W	K	S	D	V	A	S	H	F	S	N	K	R	K	K	C
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	1102	CHAIN		lost
754	814	DNA_BIND	Homeobox	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered cDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDI ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Mutated AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED FENRILLNCP YCTFNADKKT
LETHIKIFHA PNASAPSSSL STFKDKNKND GLKPKQADSV EQAVYYCKKC TYRDPLYEIV
RKHIYREHFQ HVAAPYIAKA GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV
IEDHERIGYQ VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG LGGNAPVSIP
QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS SLSSGQLKSP SLSQSQASRV
LGQSSSKPAA AATGPPPGNT SSTQKWKICT ICNELFPENV YSVHFEKEHK AEKVPAVANY
IMKIHNFTSK CLYCNRYLPT DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM
GPKTDSTLSF DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI QTVHPVEKKL
TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT NAPSRLNQSP SLAPVKRTYE
QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV VLALDPKGHE DDSYEARKSF LTKYFNKQPY
PTRREIEKLA ASLWLWKSDV ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF
DAEWLFENHD EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH NASDSEVDQD
DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES SQSEDARSSK PAAKKKATMQ
GDREQLKWKN SSYGKVEGFW SKDQSQWKNA SENDERLSNP QIEWQNSTID SEDGEQFDNM
TDGVAEPMHG SLAGVKLSSQ QA*

Position of stopcodon in wt / mu CDS

3309 / 3309

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

1103 / 1103

Position of stopcodon in wt / mu cDNA

3606 / 3606

Position of start ATG in wt / mu cDNA

298 / 298

Last intron/exon boundary

498

Theoretical NMD boundary in CDS

150

Length of CDS

3309

Coding sequence (CDS) position

2398

cDNA position

2695

gDNA position

39122

Chromosomal position

50892316

Speed

0.22 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:

20:50892316T>C_4_ENST00000644386

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 185|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:50892316T>C (GRCh38)

Gene symbol

ADNP

Gene constraints

LOEUF: 0.82, LOF (oe): 0.00, misssense (oe): 0.44, synonymous (oe): 0.72 ? (gnomAD)

Ensembl transcript ID

ENST00000644386.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.202-2359A>G
g.39122A>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	rs998441317
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	6	6

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.141	1
	3.686	1
(flanking)	2.581	1

?

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

20

Strand

-1

Original gDNA sequence snippet

TATGGTTATGGAAGAGTGACATCGCTTCCCATTTTAGTAAC

Altered gDNA sequence snippet

TATGGTTATGGAAGAGTGACGTCGCTTCCCATTTTAGTAAC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN TTWEDVGLWD
PSLTKNQMKL NVRFHLTMGT TVVQAALPLF ATLGPLAIKG KALKSTALTG L*

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

88 / 88

Last intron/exon boundary

288

Theoretical NMD boundary in CDS

150

Length of CDS

336

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

39122

Chromosomal position

50892316

Speed

0.01 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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