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: ENST00000449742
Querying Taster for transcript #2: ENST00000376704
MT speed 0.11 s - this script 2.532523 s

Transcript summary:

Permalink

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
ENST00000376704	TRIM10	Deleterious	88\|12	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000449742(MANE Select)	TRIM10	Deleterious	89\|11	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:30154382G>T_2_ENST00000376704

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:30154382G>T (GRCh38)

Gene symbol

TRIM10

Gene constraints

LOEUF: 1.21, LOF (oe): 0.92, misssense (oe): 0.93, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000376704.3

Genbank transcript ID

NM_052828 (by similarity)

UniProt / AlphaMissense peptide

TRI10_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1033C>A
g.6830C>A

AA changes

AAE:	P345T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs754026419
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	39	39

Protein conservation

Species	Match	AA	Alignment
Human		345	F	S	Y	K	W	Q	N	S	P	D	N	P	Q	R	F	D	R	A	T	C	V	L	A	H
mutated	not conserved	345	F	S	Y	K	W	Q	N	S	P	D	N	T	Q	R	F	D	R	A	T	C	V	L	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	481	CHAIN		lost
292	481	DOMAIN	B30.2/SPRY	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.562	1
	4.514	1
(flanking)	-0.039	0.004

?

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

GGCAGAACTCACCAGACAACCCCCAACGTTTTGACCGGGCC

Altered gDNA sequence snippet

GGCAGAACTCACCAGACAACACCCAACGTTTTGACCGGGCC

Original cDNA sequence snippet

GGCAGAACTCACCAGACAACCCCCAACGTTTTGACCGGGCC

Altered cDNA sequence snippet

GGCAGAACTCACCAGACAACACCCAACGTTTTGACCGGGCC

Wildtype AA sequence

MASAASVTSL ADEVNCPICQ GTLREPVTID CGHNFCRACL TRYCEIPGPD LEESPTCPLC
KEPFRPGSFR PNWQLANVVE NIERLQLVST LGLGEEDVCQ EHGEKIYFFC EDDEMQLCVV
CREAGEHATH TMRFLEDAAA PYREQIHKCL KCLRKEREEI QEIQSRENKR MQVLLTQVST
KRQQVISEFA HLRKFLEEQQ SILLAQLESQ DGDILRQRDE FDLLVAGEIC RFSALIEELE
EKNERPAREL LTDIRSTLIR CETRKCRKPV AVSPELGQRI RDFPQQALPL QREMKMFLEK
LCFELDYEPA HISLDPQTSH PKLLLSEDHQ RAQFSYKWQN SPDNPQRFDR ATCVLAHTGI
TGGRHTWVWM ARVPGDSGCC QFCSPPSVLG TEVAA*

Mutated AA sequence

MASAASVTSL ADEVNCPICQ GTLREPVTID CGHNFCRACL TRYCEIPGPD LEESPTCPLC
KEPFRPGSFR PNWQLANVVE NIERLQLVST LGLGEEDVCQ EHGEKIYFFC EDDEMQLCVV
CREAGEHATH TMRFLEDAAA PYREQIHKCL KCLRKEREEI QEIQSRENKR MQVLLTQVST
KRQQVISEFA HLRKFLEEQQ SILLAQLESQ DGDILRQRDE FDLLVAGEIC RFSALIEELE
EKNERPAREL LTDIRSTLIR CETRKCRKPV AVSPELGQRI RDFPQQALPL QREMKMFLEK
LCFELDYEPA HISLDPQTSH PKLLLSEDHQ RAQFSYKWQN SPDNTQRFDR ATCVLAHTGI
TGGRHTWVWM ARVPGDSGCC QFCSPPSVLG TEVAA*

Position of stopcodon in wt / mu CDS

1188 / 1188

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

396 / 396

Position of stopcodon in wt / mu cDNA

1264 / 1264

Position of start ATG in wt / mu cDNA

77 / 77

Last intron/exon boundary

1180

Theoretical NMD boundary in CDS

1053

Length of CDS

1188

Coding sequence (CDS) position

1033

cDNA position

1109

gDNA position

6830

Chromosomal position

30154382

Speed

0.04 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:

6:30154382G>T_1_ENST00000449742

Back to summary table

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

Chr6:30154382G>T (GRCh38)

Gene symbol

TRIM10

Gene constraints

LOEUF: 1.29, LOF (oe): 0.98, misssense (oe): 0.95, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000449742.7

Genbank transcript ID

NM_006778 (exact from MANE)

UniProt / AlphaMissense peptide

TRI10_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1033C>A
g.6830C>A

AA changes

AAE:	P345T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs754026419
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	39	39

Protein conservation

Species	Match	AA	Alignment
Human		345	F	S	Y	K	W	Q	N	S	P	D	N	P	Q	R	F	D	R	A	T	C	V	L	A	H
mutated	not conserved	345	F	S	Y	K	W	Q	N	S	P	D	N	T	Q	R	F	D	R	A	T	C	V	L	A
Ptroglodytes	all identical	345	F	S	Y	K	W	Q	N	S	P	D	N	P	Q	R	F	D	R	A	T	C	V	L	A
Mmulatta	all identical	345	F	S	Y	K	W	Q	N	S	P	D	N	P	Q	R	F	D	R	A	T	C	V	L	A
Fcatus	all identical	345	F	S	Y	K	W	Q	N	S	P	D	N	P	E	R	F	D	R	A	T	C	V	L	A
Mmusculus	all identical	345	F	S	Y	K	W	Q	N	S	P	D	T	P	Q	R	F	D	R	V	T	C	V	L	A
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	481	CHAIN		lost
292	481	DOMAIN	B30.2/SPRY	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.562	1
	4.514	1
(flanking)	-0.039	0.004

?

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

GGCAGAACTCACCAGACAACCCCCAACGTTTTGACCGGGCC

Altered gDNA sequence snippet

GGCAGAACTCACCAGACAACACCCAACGTTTTGACCGGGCC

Original cDNA sequence snippet

GGCAGAACTCACCAGACAACCCCCAACGTTTTGACCGGGCC

Altered cDNA sequence snippet

GGCAGAACTCACCAGACAACACCCAACGTTTTGACCGGGCC

Wildtype AA sequence

MASAASVTSL ADEVNCPICQ GTLREPVTID CGHNFCRACL TRYCEIPGPD LEESPTCPLC
KEPFRPGSFR PNWQLANVVE NIERLQLVST LGLGEEDVCQ EHGEKIYFFC EDDEMQLCVV
CREAGEHATH TMRFLEDAAA PYREQIHKCL KCLRKEREEI QEIQSRENKR MQVLLTQVST
KRQQVISEFA HLRKFLEEQQ SILLAQLESQ DGDILRQRDE FDLLVAGEIC RFSALIEELE
EKNERPAREL LTDIRSTLIR CETRKCRKPV AVSPELGQRI RDFPQQALPL QREMKMFLEK
LCFELDYEPA HISLDPQTSH PKLLLSEDHQ RAQFSYKWQN SPDNPQRFDR ATCVLAHTGI
TGGRHTWVVS IDLAHGGSCT VGVVSEDVQR KGELRLRPEE GVWAVRLAWG FVSALGSFPT
RLTLKEQPRQ VRVSLDYEVG WVTFTNAVTR EPIYTFTASF TRKVIPFFGL WGRGSSFSLS
S*

Mutated AA sequence

MASAASVTSL ADEVNCPICQ GTLREPVTID CGHNFCRACL TRYCEIPGPD LEESPTCPLC
KEPFRPGSFR PNWQLANVVE NIERLQLVST LGLGEEDVCQ EHGEKIYFFC EDDEMQLCVV
CREAGEHATH TMRFLEDAAA PYREQIHKCL KCLRKEREEI QEIQSRENKR MQVLLTQVST
KRQQVISEFA HLRKFLEEQQ SILLAQLESQ DGDILRQRDE FDLLVAGEIC RFSALIEELE
EKNERPAREL LTDIRSTLIR CETRKCRKPV AVSPELGQRI RDFPQQALPL QREMKMFLEK
LCFELDYEPA HISLDPQTSH PKLLLSEDHQ RAQFSYKWQN SPDNTQRFDR ATCVLAHTGI
TGGRHTWVVS IDLAHGGSCT VGVVSEDVQR KGELRLRPEE GVWAVRLAWG FVSALGSFPT
RLTLKEQPRQ VRVSLDYEVG WVTFTNAVTR EPIYTFTASF TRKVIPFFGL WGRGSSFSLS
S*

Position of stopcodon in wt / mu CDS

1446 / 1446

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

482 / 482

Position of stopcodon in wt / mu cDNA

1799 / 1799

Position of start ATG in wt / mu cDNA

354 / 354

Last intron/exon boundary

1281

Theoretical NMD boundary in CDS

877

Length of CDS

1446

Coding sequence (CDS) position

1033

cDNA position

1386

gDNA position

6830

Chromosomal position

30154382

Speed

0.07 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