MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000409110
MT speed 0.09 s - this script 2.554418 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
ENST00000409110(MANE Select)	SAG	Deleterious	51\|49	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:233309206A>G_1_ENST00000409110

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 51|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:233309206A>G (GRCh38)

Gene symbol

SAG

Gene constraints

LOEUF: 0.92, LOF (oe): 0.65, misssense (oe): 0.91, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000409110.6

Genbank transcript ID

NM_000541 (exact from MANE)

UniProt / AlphaMissense peptide

ARRS_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.17A>G
g.1391A>G

AA changes

AAE:	K6R	?
Score:	26

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs772312202
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	14	14

Protein conservation

Species	Match	AA
Human		6	M	A	A	S	G	K	T	S	K	S	E	P	N	H	V	I	F	K
mutated	all conserved	6	M	A	A	S	G	R	T	S	K	S	E	P	N	H	V	I	F	K	K	I	S	R
Ptroglodytes	all identical	6	M	A	A	S	G	K	T	S	K	S	E	P	N	H	V	I	F	K	K	I	S	R
Mmulatta	all identical	6	M	A	A	S	G	K	T	S	K	S	E	P	N	H	V	I	F	K	K	I	S	R
Fcatus	all identical	6	M	A	A	S	G	K	T	G	K	A	A	P	N	H	V	I	F	K	K	I	S	R
Mmusculus	all identical	6	M	A	A	C	G	K	T	N	K	S	-	-	-	H	V	I	F	K	K	V	S	R
Ggallus	all identical	11				T	G	K	N	A	D	S	S	P	K	Q	V	I	F	K	K	S	T	R
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	405	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.524	0.275
	0.935	0.306
(flanking)	2.577	0.32

?

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

2

Strand

1

Original gDNA sequence snippet

TAACATGGCAGCCAGCGGGAAGACCAGCAAGTCCGAACCGA

Altered gDNA sequence snippet

TAACATGGCAGCCAGCGGGAGGACCAGCAAGTCCGAACCGA

Original cDNA sequence snippet

TAACATGGCAGCCAGCGGGAAGACCAGCAAGTCCGAACCGA

Altered cDNA sequence snippet

TAACATGGCAGCCAGCGGGAGGACCAGCAAGTCCGAACCGA

Wildtype AA sequence

MAASGKTSKS EPNHVIFKKI SRDKSVTIYL GNRDYIDHVS QVQPVDGVVL VDPDLVKGKK
VYVTLTCAFR YGQEDIDVIG LTFRRDLYFS RVQVYPPVGA ASTPTKLQES LLKKLGSNTY
PFLLTFPDYL PCSVMLQPAP QDSGKSCGVD FEVKAFATDS TDAEEDKIPK KSSVRLLIRK
VQHAPLEMGP QPRAEAAWQF FMSDKPLHLA VSLNKEIYFH GEPIPVTVTV TNNTEKTVKK
IKAFVEQVAN VVLYSSDYYV KPVAMEEAQE KVPPNSTLTK TLTLLPLLAN NRERRGIALD
GKIKHEDTNL ASSTIIKEGI DRTVLGILVS YQIKVKLTVS GFLGELTSSE VATEVPFRLM
HPQPEDPAKE SYQDANLVFE EFARHNLKDA GEAEEGKRDK NDVDE*

Mutated AA sequence

MAASGRTSKS EPNHVIFKKI SRDKSVTIYL GNRDYIDHVS QVQPVDGVVL VDPDLVKGKK
VYVTLTCAFR YGQEDIDVIG LTFRRDLYFS RVQVYPPVGA ASTPTKLQES LLKKLGSNTY
PFLLTFPDYL PCSVMLQPAP QDSGKSCGVD FEVKAFATDS TDAEEDKIPK KSSVRLLIRK
VQHAPLEMGP QPRAEAAWQF FMSDKPLHLA VSLNKEIYFH GEPIPVTVTV TNNTEKTVKK
IKAFVEQVAN VVLYSSDYYV KPVAMEEAQE KVPPNSTLTK TLTLLPLLAN NRERRGIALD
GKIKHEDTNL ASSTIIKEGI DRTVLGILVS YQIKVKLTVS GFLGELTSSE VATEVPFRLM
HPQPEDPAKE SYQDANLVFE EFARHNLKDA GEAEEGKRDK NDVDE*

Position of stopcodon in wt / mu CDS

1218 / 1218

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

406 / 406

Position of stopcodon in wt / mu cDNA

1453 / 1453

Position of start ATG in wt / mu cDNA

236 / 236

Last intron/exon boundary

1347

Theoretical NMD boundary in CDS

1061

Length of CDS

1218

Coding sequence (CDS) position

17

cDNA position

252

gDNA position

1391

Chromosomal position

233309206

Speed

0.09 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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