MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000298139
MT speed 0.05 s - this script 2.504845 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
ENST00000298139(MANE Select)	WRN	Benign	34\|66	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:31068277G>A_1_ENST00000298139

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:31068277G>A (GRCh38)

Gene symbol

WRN

Gene constraints

LOEUF: 0.90, LOF (oe): 0.78, misssense (oe): 0.93, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000298139.7

Genbank transcript ID

NM_000553 (exact from MANE)

UniProt / AlphaMissense peptide

WRN_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.674G>A
g.34490G>A

AA changes

AAE:	R225Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs62506077
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	18	18

Protein conservation

Species	Match	AA	Alignment
Human		225	A	T	D	A	Y	A	G	F	I	I	Y	R	N	L	E	I	L	D	D	T	V	Q	R	F
mutated	all conserved	225	A	T	D	A	Y	A	G	F	I	I	Y	Q	N	L	E	I	L	D	D	T	V	Q	R
Ptroglodytes	all identical	225	A	T	D	A	Y	A	G	F	I	I	Y	R	N	L	E	I	L	D	D	T	V	Q	R
Mmulatta	all identical	225	A	T	D	A	Y	A	G	F	I	I	Y	R	N	L	E	I	L	D	D	A	V	Q	R
Fcatus	all identical	225	A	T	D	A	Y	A	G	L	I	I	Y	R	K	L	E	N	L	S	D	A	V	Q	M
Mmusculus	all conserved	219	A	T	D	A	Y	A	G	L	I	I	Y	Q	K	L	G	N	L	G	D	T	A	Q	V
Ggallus	all conserved	235	A	T	D	A	Y	A	G	F	I	I	Y	Q	K	L	K	T	M	N	S	I	D	R	K
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	all conserved	219	A	S	D	A	Y	A	G	L	L	I	Y	Q	K	L	E	C	M	D	-	-	-	-	-

Protein features

Start (aa)	End (aa)	Feature	Details
2	277	REGION	Interaction with WRNIP1	lost
2	1432	CHAIN		lost
60	228	DOMAIN	3'-5' exonuclease	lost
207	228	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.963	0.447
	-0.753	0.137
(flanking)	1.632	0.896

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

20

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

8

Strand

1

Original gDNA sequence snippet

GGCTGGTTTTATTATTTACCGAAATTTAGAGATTTTGGATG

Altered gDNA sequence snippet

GGCTGGTTTTATTATTTACCAAAATTTAGAGATTTTGGATG

Original cDNA sequence snippet

TGCTGGTTTTATTATTTACCGAAATTTAGAGATTTTGGATG

Altered cDNA sequence snippet

TGCTGGTTTTATTATTTACCAAAATTTAGAGATTTTGGATG

Wildtype AA sequence

MSEKKLETTA QQRKCPEWMN VQNKRCAVEE RKACVRKSVF EDDLPFLEFT GSIVYSYDAS
DCSFLSEDIS MSLSDGDVVG FDMEWPPLYN RGKLGKVALI QLCVSESKCY LFHVSSMSVF
PQGLKMLLEN KAVKKAGVGI EGDQWKLLRD FDIKLKNFVE LTDVANKKLK CTETWSLNSL
VKHLLGKQLL KDKSIRCSNW SKFPLTEDQK LYAATDAYAG FIIYRNLEIL DDTVQRFAIN
KEEEILLSDM NKQLTSISEE VMDLAKHLPH AFSKLENPRR VSILLKDISE NLYSLRRMII
GSTNIETELR PSNNLNLLSF EDSTTGGVQQ KQIREHEVLI HVEDETWDPT LDHLAKHDGE
DVLGNKVERK EDGFEDGVED NKLKENMERA CLMSLDITEH ELQILEQQSQ EEYLSDIAYK
STEHLSPNDN ENDTSYVIES DEDLEMEMLK HLSPNDNEND TSYVIESDED LEMEMLKSLE
NLNSGTVEPT HSKCLKMERN LGLPTKEEEE DDENEANEGE EDDDKDFLWP APNEEQVTCL
KMYFGHSSFK PVQWKVIHSV LEERRDNVAV MATGYGKSLC FQYPPVYVGK IGLVISPLIS
LMEDQVLQLK MSNIPACFLG SAQSENVLTD IKLGKYRIVY VTPEYCSGNM GLLQQLEADI
GITLIAVDEA HCISEWGHDF RDSFRKLGSL KTALPMVPIV ALTATASSSI REDIVRCLNL
RNPQITCTGF DRPNLYLEVR RKTGNILQDL QPFLVKTSSH WEFEGPTIIY CPSRKMTQQV
TGELRKLNLS CGTYHAGMSF STRKDIHHRF VRDEIQCVIA TIAFGMGINK ADIRQVIHYG
APKDMESYYQ EIGRAGRDGL QSSCHVLWAP ADINLNRHLL TEIRNEKFRL YKLKMMAKME
KYLHSSRCRR QIILSHFEDK QVQKASLGIM GTEKCCDNCR SRLDHCYSMD DSEDTSWDFG
PQAFKLLSAV DILGEKFGIG LPILFLRGSN SQRLADQYRR HSLFGTGKDQ TESWWKAFSR
QLITEGFLVE VSRYNKFMKI CALTKKGRNW LHKANTESQS LILQANEELC PKKLLLPSSK
TVSSGTKEHC YNQVPVELST EKKSNLEKLY SYKPCDKISS GSNISKKSIM VQSPEKAYSS
SQPVISAQEQ ETQIVLYGKL VEARQKHANK MDVPPAILAT NKILVDMAKM RPTTVENVKR
IDGVSEGKAA MLAPLLEVIK HFCQTNSVQT DLFSSTKPQE EQKTSLVAKN KICTLSQSMA
ITYSLFQEKK MPLKSIAESR ILPLMTIGMH LSQAVKAGCP LDLERAGLTP EVQKIIADVI
RNPPVNSDMS KISLIRMLVP ENIDTYLIHM AIEILKHGPD SGLQPSCDVN KRRCFPGSEE
ICSSSKRSKE EVGINTETSS AERKRRLPVW FAKGSDTSKK LMDKTKRGGL FS*

Mutated AA sequence

MSEKKLETTA QQRKCPEWMN VQNKRCAVEE RKACVRKSVF EDDLPFLEFT GSIVYSYDAS
DCSFLSEDIS MSLSDGDVVG FDMEWPPLYN RGKLGKVALI QLCVSESKCY LFHVSSMSVF
PQGLKMLLEN KAVKKAGVGI EGDQWKLLRD FDIKLKNFVE LTDVANKKLK CTETWSLNSL
VKHLLGKQLL KDKSIRCSNW SKFPLTEDQK LYAATDAYAG FIIYQNLEIL DDTVQRFAIN
KEEEILLSDM NKQLTSISEE VMDLAKHLPH AFSKLENPRR VSILLKDISE NLYSLRRMII
GSTNIETELR PSNNLNLLSF EDSTTGGVQQ KQIREHEVLI HVEDETWDPT LDHLAKHDGE
DVLGNKVERK EDGFEDGVED NKLKENMERA CLMSLDITEH ELQILEQQSQ EEYLSDIAYK
STEHLSPNDN ENDTSYVIES DEDLEMEMLK HLSPNDNEND TSYVIESDED LEMEMLKSLE
NLNSGTVEPT HSKCLKMERN LGLPTKEEEE DDENEANEGE EDDDKDFLWP APNEEQVTCL
KMYFGHSSFK PVQWKVIHSV LEERRDNVAV MATGYGKSLC FQYPPVYVGK IGLVISPLIS
LMEDQVLQLK MSNIPACFLG SAQSENVLTD IKLGKYRIVY VTPEYCSGNM GLLQQLEADI
GITLIAVDEA HCISEWGHDF RDSFRKLGSL KTALPMVPIV ALTATASSSI REDIVRCLNL
RNPQITCTGF DRPNLYLEVR RKTGNILQDL QPFLVKTSSH WEFEGPTIIY CPSRKMTQQV
TGELRKLNLS CGTYHAGMSF STRKDIHHRF VRDEIQCVIA TIAFGMGINK ADIRQVIHYG
APKDMESYYQ EIGRAGRDGL QSSCHVLWAP ADINLNRHLL TEIRNEKFRL YKLKMMAKME
KYLHSSRCRR QIILSHFEDK QVQKASLGIM GTEKCCDNCR SRLDHCYSMD DSEDTSWDFG
PQAFKLLSAV DILGEKFGIG LPILFLRGSN SQRLADQYRR HSLFGTGKDQ TESWWKAFSR
QLITEGFLVE VSRYNKFMKI CALTKKGRNW LHKANTESQS LILQANEELC PKKLLLPSSK
TVSSGTKEHC YNQVPVELST EKKSNLEKLY SYKPCDKISS GSNISKKSIM VQSPEKAYSS
SQPVISAQEQ ETQIVLYGKL VEARQKHANK MDVPPAILAT NKILVDMAKM RPTTVENVKR
IDGVSEGKAA MLAPLLEVIK HFCQTNSVQT DLFSSTKPQE EQKTSLVAKN KICTLSQSMA
ITYSLFQEKK MPLKSIAESR ILPLMTIGMH LSQAVKAGCP LDLERAGLTP EVQKIIADVI
RNPPVNSDMS KISLIRMLVP ENIDTYLIHM AIEILKHGPD SGLQPSCDVN KRRCFPGSEE
ICSSSKRSKE EVGINTETSS AERKRRLPVW FAKGSDTSKK LMDKTKRGGL FS*

Position of stopcodon in wt / mu CDS

4299 / 4299

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

1433 / 1433

Position of stopcodon in wt / mu cDNA

4539 / 4539

Position of start ATG in wt / mu cDNA

241 / 241

Last intron/exon boundary

4431

Theoretical NMD boundary in CDS

4140

Length of CDS

4299

Coding sequence (CDS) position

674

cDNA position

914

gDNA position

34490

Chromosomal position

31068277

Speed

0.05 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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