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: ENST00000478927
Querying Taster for transcript #2: ENST00000357003
Querying Taster for transcript #3: ENST00000465513
Querying Taster for transcript #4: ENST00000478399
MT speed 1.09 s - this script 3.545615 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000478927	ADPRH	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000465513	ADPRH	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000478399	ADPRH	Deleterious	73\|27	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000357003(MANE Select)	ADPRH	Deleterious	74\|26	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

3:119586507C>T_1_ENST00000478927

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:119586507C>T (GRCh38)

Gene symbol

ADPRH

Gene constraints

LOEUF: 1.17, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000478927.5

Genbank transcript ID

UniProt / AlphaMissense peptide

ADPRH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.521C>T
g.7240C>T

AA changes

AAE:	A174V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201509638
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		174	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A	Y	A	V	N	S	R
mutated	not conserved	174	H	H	H	P	T	G	Y	L	G	A	L	V	S	A	L	F	T	A
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	357	CHAIN		lost
166	183	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.879	0.988
	0.211	0.026
(flanking)	-0.443	0.011

?

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

3

Strand

1

Original gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Original cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Wildtype AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALASALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Mutated AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALVSALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Position of stopcodon in wt / mu CDS

1074 / 1074

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

358 / 358

Position of stopcodon in wt / mu cDNA

1372 / 1372

Position of start ATG in wt / mu cDNA

299 / 299

Last intron/exon boundary

957

Theoretical NMD boundary in CDS

608

Length of CDS

1074

Coding sequence (CDS) position

521

cDNA position

819

gDNA position

7240

Chromosomal position

119586507

Speed

0.29 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:

3:119586507C>T_3_ENST00000465513

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:119586507C>T (GRCh38)

Gene symbol

ADPRH

Gene constraints

LOEUF: 1.17, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000465513.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ADPRH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.521C>T
g.7240C>T

AA changes

AAE:	A174V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201509638
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		174	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A	Y	A	V	N	S	R
mutated	not conserved	174	H	H	H	P	T	G	Y	L	G	A	L	V	S	A	L	F	T	A
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	357	CHAIN		lost
166	183	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.879	0.988
	0.211	0.026
(flanking)	-0.443	0.011

?

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

3

Strand

1

Original gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Original cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Wildtype AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALASALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Mutated AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALVSALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Position of stopcodon in wt / mu CDS

1074 / 1074

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

358 / 358

Position of stopcodon in wt / mu cDNA

1179 / 1179

Position of start ATG in wt / mu cDNA

106 / 106

Last intron/exon boundary

764

Theoretical NMD boundary in CDS

608

Length of CDS

1074

Coding sequence (CDS) position

521

cDNA position

626

gDNA position

7240

Chromosomal position

119586507

Speed

0.42 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:

3:119586507C>T_4_ENST00000478399

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 73|27 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:119586507C>T (GRCh38)

Gene symbol

ADPRH

Gene constraints

LOEUF: 1.17, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000478399.5

Genbank transcript ID

NM_001391992 (by similarity), NM_001291949 (by similarity), NM_001291950 (by similarity)

UniProt / AlphaMissense peptide

ADPRH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.521C>T
g.7240C>T

AA changes

AAE:	A174V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201509638
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		174	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A	Y	A	V	N	S	R
mutated	not conserved	174	H	H	H	P	T	G	Y	L	G	A	L	V	S	A	L	F	T	A
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	357	CHAIN		lost
166	183	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.879	0.988
	0.211	0.026
(flanking)	-0.443	0.011

?

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

3

Strand

1

Original gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Original cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Wildtype AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALASALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Mutated AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALVSALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Position of stopcodon in wt / mu CDS

1074 / 1074

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

358 / 358

Position of stopcodon in wt / mu cDNA

2479 / 2479

Position of start ATG in wt / mu cDNA

1406 / 1406

Last intron/exon boundary

2064

Theoretical NMD boundary in CDS

608

Length of CDS

1074

Coding sequence (CDS) position

521

cDNA position

1926

gDNA position

7240

Chromosomal position

119586507

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:

3:119586507C>T_2_ENST00000357003

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 74|26 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:119586507C>T (GRCh38)

Gene symbol

ADPRH

Gene constraints

LOEUF: 1.17, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000357003.8

Genbank transcript ID

NM_001125 (exact from MANE), NM_001371092 (by similarity)

UniProt / AlphaMissense peptide

ADPRH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.521C>T
g.7240C>T

AA changes

AAE:	A174V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201509638
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		174	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A	Y	A	V	N	S	R
mutated	not conserved	174	H	H	H	P	T	G	Y	L	G	A	L	V	S	A	L	F	T	A
Ptroglodytes	all identical	174	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A
Mmulatta	all identical	356	H	H	H	P	T	G	Y	L	G	A	L	A	S	A	L	F	T	A
Fcatus	no homologue
Mmusculus	all identical	179	H	H	H	P	T	G	Y	L	G	S	L	A	S	A	L	F	T	A
Ggallus	all identical	209	H	H	N	P	T	G	Y	L	G	S	L	A	S	A	L	F	T	A
Trubripes	all identical	179	H	P	H	P	T	G	F	L	G	A	V	A	S	A	L	F
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	218	H	H	H	P	T	G	Y	L	G	S	L	A	A	S	L	F	S	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	357	CHAIN		lost
166	183	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.879	0.988
	0.211	0.026
(flanking)	-0.443	0.011

?

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

3

Strand

1

Original gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered gDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Original cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGCGTCTGCTCTTTTTACAGCCT

Altered cDNA sequence snippet

AGGCTACCTGGGGGCCCTTGTGTCTGCTCTTTTTACAGCCT

Wildtype AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALASALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Mutated AA sequence

MEKYVAAMVL SAAGDALGYY NGKWEFLQDG EKIHRQLAQL GGLDALDVGR WRVSDDTVMH
LATAEALVEA GKAPKLTQLY YLLAKHYQDC MEDMDGRAPG GASVHNAMQL KPGKPNGWRI
PFNSHEGGCG AAMRAMCIGL RFPHHSQLDT LIQVSIESGR MTHHHPTGYL GALVSALFTA
YAVNSRPPLQ WGKGLMELLP EAKKYIVQSG YFVEENLQHW SYFQTKWENY LKLRGILDGE
SAPTFPESFG VKERDQFYTS LSYSGWGGSS GHDAPMIAYD AVLAAGDSWK ELAHRAFFHG
GDSDSTAAIA GCWWGVMYGF KGVSPSNYEK LEYRNRLEET ARALYSLGSK EDTVISL*

Position of stopcodon in wt / mu CDS

1074 / 1074

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

358 / 358

Position of stopcodon in wt / mu cDNA

1556 / 1556

Position of start ATG in wt / mu cDNA

483 / 483

Last intron/exon boundary

1141

Theoretical NMD boundary in CDS

608

Length of CDS

1074

Coding sequence (CDS) position

521

cDNA position

1003

gDNA position

7240

Chromosomal position

119586507

Speed

0.30 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