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: ENST00000634733
Querying Taster for transcript #2: ENST00000614911
MT speed 0.6 s - this script 3.02954 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000614911(MANE Select)	H3C6	Deleterious	89\|11	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000634733	H3C6	Deleterious	92\|8	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:26225221A>G_2_ENST00000614911

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:26225221A>G (GRCh38)

Gene symbol

H3C6

Gene constraints

LOEUF: 1.97, LOF (oe): 1.97, misssense (oe): 1.44, synonymous (oe): 2.13 ? (gnomAD)

Ensembl transcript ID

ENST00000614911.3

Genbank transcript ID

NM_003532 (exact from MANE)

UniProt / AlphaMissense peptide

H31_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.67A>G
g.1023A>G

AA changes

AAE:	T23A	?
Score:	58

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200763787
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	96	96

Protein conservation

Species	Match	AA	Alignment
Human		23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G	G
mutated	not conserved	23	T	G	G	K	A	P	R	K	Q	L	A	A	K	A	A	R	K	S	A	P	A	T	G
Ptroglodytes	all identical	23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G
Mmulatta	all identical	23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G
Fcatus	all identical	23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G
Mmusculus	all identical	23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G

Protein features

Start (aa)	End (aa)	Feature	Details
1	43	REGION		lost
2	136	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.854	0.008
	7.246	1
(flanking)	5.965	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

6

Strand

1

Original gDNA sequence snippet

CACCGCGCAAACAGCTGGCCACTAAGGCAGCTCGCAAGAGC

Altered gDNA sequence snippet

CACCGCGCAAACAGCTGGCCGCTAAGGCAGCTCGCAAGAGC

Original cDNA sequence snippet

CACCGCGCAAACAGCTGGCCACTAAGGCAGCTCGCAAGAGC

Altered cDNA sequence snippet

CACCGCGCAAACAGCTGGCCGCTAAGGCAGCTCGCAAGAGC

Wildtype AA sequence

MARTKQTARK STGGKAPRKQ LATKAARKSA PATGGVKKPH RYRPGTVALR EIRRYQKSTE
LLIRKLPFQR LVREIAQDFK TDLRFQSSAV MALQEACEAY LVGLFEDTNL CAIHAKRVTI
MPKDIQLARR IRGERA*

Mutated AA sequence

MARTKQTARK STGGKAPRKQ LAAKAARKSA PATGGVKKPH RYRPGTVALR EIRRYQKSTE
LLIRKLPFQR LVREIAQDFK TDLRFQSSAV MALQEACEAY LVGLFEDTNL CAIHAKRVTI
MPKDIQLARR IRGERA*

Position of stopcodon in wt / mu CDS

411 / 411

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

137 / 137

Position of stopcodon in wt / mu cDNA

431 / 431

Position of start ATG in wt / mu cDNA

21 / 21

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

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

Length of CDS

411

Coding sequence (CDS) position

67

cDNA position

87

gDNA position

1023

Chromosomal position

26225221

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

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MutationT@ster 2025

Variant:

6:26225221A>G_1_ENST00000634733

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:26225221A>G (GRCh38)

Gene symbol

H3C6

Gene constraints

LOEUF: 1.97, LOF (oe): 1.97, misssense (oe): 1.44, synonymous (oe): 2.13 ? (gnomAD)

Ensembl transcript ID

ENST00000634733.1

Genbank transcript ID

NM_001381999 (by similarity)

UniProt / AlphaMissense peptide

H31_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.67A>G
g.1023A>G

AA changes

AAE:	T23A	?
Score:	58

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200763787
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	96	96

Protein conservation

Species	Match	AA	Alignment
Human		23	T	G	G	K	A	P	R	K	Q	L	A	T	K	A	A	R	K	S	A	P	A	T	G	G
mutated	not conserved	23	T	G	G	K	A	P	R	K	Q	L	A	A	K	A	A	R	K	S	A	P	A	T	G
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	43	REGION		lost
2	136	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.854	0.008
	7.246	1
(flanking)	5.965	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

6

Strand

1

Original gDNA sequence snippet

CACCGCGCAAACAGCTGGCCACTAAGGCAGCTCGCAAGAGC

Altered gDNA sequence snippet

CACCGCGCAAACAGCTGGCCGCTAAGGCAGCTCGCAAGAGC

Original cDNA sequence snippet

CACCGCGCAAACAGCTGGCCACTAAGGCAGCTCGCAAGAGC

Altered cDNA sequence snippet

CACCGCGCAAACAGCTGGCCGCTAAGGCAGCTCGCAAGAGC

Wildtype AA sequence

MARTKQTARK STGGKAPRKQ LATKAARKSA PATGGVKKPH RYRPGTVALR EIRRYQKSTE
LLIRKLPFQR LVREIAQDFK TDLRFQSSAV MALQEACEAY LVGLFEDTNL CAIHAKRVTI
MPKDIQLARR IRGERA*

Mutated AA sequence

MARTKQTARK STGGKAPRKQ LAAKAARKSA PATGGVKKPH RYRPGTVALR EIRRYQKSTE
LLIRKLPFQR LVREIAQDFK TDLRFQSSAV MALQEACEAY LVGLFEDTNL CAIHAKRVTI
MPKDIQLARR IRGERA*

Position of stopcodon in wt / mu CDS

411 / 411

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

137 / 137

Position of stopcodon in wt / mu cDNA

771 / 771

Position of start ATG in wt / mu cDNA

361 / 361

Last intron/exon boundary

107

Theoretical NMD boundary in CDS

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

Length of CDS

411

Coding sequence (CDS) position

67

cDNA position

427

gDNA position

1023

Chromosomal position

26225221

Speed

0.31 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