MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000202967
MT speed 0.05 s - this script 2.507511 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
ENST00000202967(MANE Select)	SIRT4	Deleterious	89\|11	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

12:120312897A>C_1_ENST00000202967

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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

Chr12:120312897A>C (GRCh38)

Gene symbol

SIRT4

Gene constraints

LOEUF: 1.17, LOF (oe): 0.83, misssense (oe): 0.85, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000202967.4

Genbank transcript ID

NM_012240 (exact from MANE), NM_001385733 (by similarity), NM_001385735 (by similarity), NM_001385734 (by similarity)

UniProt / AlphaMissense peptide

SIR4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.806A>C
g.10582A>C

AA changes

AAE:	Y269S	?
Score:	144

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		269	V	V	G	S	S	L	Q	V	Y	S	G	Y	R	F	I	L	T	A	W	E	K	K	L	P
mutated	not conserved	269	V	V	G	S	S	L	Q	V	Y	S	G	S	R	F	I	L	T	A	W	E	K	K	L
Ptroglodytes	all identical	269	V	V	G	S	S	L	Q	V	Y	S	G	Y	R	F	I	L	T	A	W	E	K	K	L
Mmulatta	all identical	278	V	V	G	S	S	L	Q	V	Y	S	S	Y	R	F	I	L	T	A	R	E	K	K	L
Fcatus	no alignment	n/a
Mmusculus	all identical	266	V	V	G	S	S	L	Q	V	Y	S	G	Y	R	F	I	L	T	A	R	E	Q	K	L
Ggallus	no alignment	n/a
Trubripes	all identical	265												Y	R	F	L	L	A	A	S	D	K	K	L
Drerio	no homologue
Dmelanogaster	all identical	260	V	L	G	S	S	L	L	V	F	S	G	Y	R	V
Celegans	all conserved	539										S	G	F	R	F	I	H	H	A	N	M	K	K	K
Xtropicalis	all identical	268								V	Y	S	G	Y	R	F	A	L	N	A	K	E	L	H	L

Protein features

Start (aa)	End (aa)	Feature	Details
29	314	CHAIN		lost
37	314	DOMAIN	Deacetylase sirtuin-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.957	1
	9.253	1
(flanking)	2.078	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

14

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

1

Original gDNA sequence snippet

CGTGCAGGTATACTCTGGTTACAGGTTTATCCTCACTGCCT

Altered gDNA sequence snippet

CGTGCAGGTATACTCTGGTTCCAGGTTTATCCTCACTGCCT

Original cDNA sequence snippet

CTTGCAGGTATACTCTGGTTACAGGTTTATCCTCACTGCCT

Altered cDNA sequence snippet

CTTGCAGGTATACTCTGGTTCCAGGTTTATCCTCACTGCCT

Wildtype AA sequence

MKMSFALTFR SAKGRWIANP SQPCSKASIG LFVPASPPLD PEKVKELQRF ITLSKRLLVM
TGAGISTESG IPDYRSEKVG LYARTDRRPI QHGDFVRSAP IRQRYWARNF VGWPQFSSHQ
PNPAHWALST WEKLGKLYWL VTQNVDALHT KAGSRRLTEL HGCMDRVLCL DCGEQTPRGV
LQERFQVLNP TWSAEAHGLA PDGDVFLSEE QVRSFQVPTC VQCGGHLKPD VVFFGDTVNP
DKVDFVHKRV KEADSLLVVG SSLQVYSGYR FILTAWEKKL PIAILNIGPT RSDDLACLKL
NSRCGELLPL IDPC*

Mutated AA sequence

MKMSFALTFR SAKGRWIANP SQPCSKASIG LFVPASPPLD PEKVKELQRF ITLSKRLLVM
TGAGISTESG IPDYRSEKVG LYARTDRRPI QHGDFVRSAP IRQRYWARNF VGWPQFSSHQ
PNPAHWALST WEKLGKLYWL VTQNVDALHT KAGSRRLTEL HGCMDRVLCL DCGEQTPRGV
LQERFQVLNP TWSAEAHGLA PDGDVFLSEE QVRSFQVPTC VQCGGHLKPD VVFFGDTVNP
DKVDFVHKRV KEADSLLVVG SSLQVYSGSR FILTAWEKKL PIAILNIGPT RSDDLACLKL
NSRCGELLPL IDPC*

Position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

Position of stopcodon in wt / mu cDNA

1004 / 1004

Position of start ATG in wt / mu cDNA

60 / 60

Last intron/exon boundary

851

Theoretical NMD boundary in CDS

741

Length of CDS

945

Coding sequence (CDS) position

806

cDNA position

865

gDNA position

10582

Chromosomal position

120312897

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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