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: ENST00000382848
Querying Taster for transcript #2: ENST00000382844
MT speed 0.16 s - this script 2.589874 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
ENST00000382848(MANE Select)	GJB2	Deleterious	94\|6	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 44722 (pathogenic) Protein features (might be) affected
ENST00000382844	GJB2	Deleterious	94\|6	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 44722 (pathogenic) Protein features (might be) affected

MutationT@ster 2025

Variant:

13:20189481A>C_1_ENST00000382848

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 44722 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr13:20189481A>C (GRCh38)

Gene symbol

GJB2

Gene constraints

LOEUF: 1.96, LOF (oe): 1.78, misssense (oe): 0.93, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000382848.5

Genbank transcript ID

NM_004004 (exact from MANE)

UniProt / AlphaMissense peptide

CXB2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.101T>G
g.3458T>G

AA changes

AAE:	M34R	?
Score:	91

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Rare genetic deafness

pathogenic

ClinVar

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G	D
mutated	not conserved	34	I	W	L	T	V	L	F	I	F	R	I	R	I	L	V	V	A	A	K	E	V	W	G
Ptroglodytes	all identical	34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G
Mmulatta	all identical	34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G
Fcatus	all identical	34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G
Mmusculus	all identical	34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G
Ggallus	all identical	34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	E	R	V	W	G
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	226	CHAIN		lost
19	38	HELIX		lost
21	40	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.028	1
	5.061	1
(flanking)	3.304	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

13

Strand

-1

Original gDNA sequence snippet

CCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAA

Altered gDNA sequence snippet

CCTCTTCATTTTTCGCATTAGGATCCTCGTTGTGGCTGCAA

Original cDNA sequence snippet

CCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAA

Altered cDNA sequence snippet

CCTCTTCATTTTTCGCATTAGGATCCTCGTTGTGGCTGCAA

Wildtype AA sequence

MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV*

Mutated AA sequence

MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIRILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV*

Position of stopcodon in wt / mu CDS

681 / 681

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

227 / 227

Position of stopcodon in wt / mu cDNA

859 / 859

Position of start ATG in wt / mu cDNA

179 / 179

Last intron/exon boundary

156

Theoretical NMD boundary in CDS

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

Length of CDS

681

Coding sequence (CDS) position

101

cDNA position

279

gDNA position

3458

Chromosomal position

20189481

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

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MutationT@ster 2025

Variant:

13:20189481A>C_2_ENST00000382844

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 44722 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr13:20189481A>C (GRCh38)

Gene symbol

GJB2

Gene constraints

LOEUF: 1.96, LOF (oe): 1.78, misssense (oe): 0.93, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000382844.2

Genbank transcript ID

UniProt / AlphaMissense peptide

CXB2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.101T>G
g.3458T>G

AA changes

AAE:	M34R	?
Score:	91

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Rare genetic deafness

pathogenic

ClinVar

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		34	I	W	L	T	V	L	F	I	F	R	I	M	I	L	V	V	A	A	K	E	V	W	G	D
mutated	not conserved	34	I	W	L	T	V	L	F	I	F	R	I	R	I	L	V	V	A	A	K	E	V	W	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	226	CHAIN		lost
19	38	HELIX		lost
21	40	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.028	1
	5.061	1
(flanking)	3.304	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

13

Strand

-1

Original gDNA sequence snippet

CCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAA

Altered gDNA sequence snippet

CCTCTTCATTTTTCGCATTAGGATCCTCGTTGTGGCTGCAA

Original cDNA sequence snippet

CCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAA

Altered cDNA sequence snippet

CCTCTTCATTTTTCGCATTAGGATCCTCGTTGTGGCTGCAA

Wildtype AA sequence

MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV*

Mutated AA sequence

MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIRILVVAA KEVWGDEQAD FVCNTLQPGC
KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE
IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC
FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV*

Position of stopcodon in wt / mu CDS

681 / 681

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

227 / 227

Position of stopcodon in wt / mu cDNA

880 / 880

Position of start ATG in wt / mu cDNA

200 / 200

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

681

Coding sequence (CDS) position

101

cDNA position

300

gDNA position

3458

Chromosomal position

20189481

Speed

0.06 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