MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000373795
MT speed 0.07 s - this script 2.532177 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
ENST00000373795(MANE Select)	SRSF4	Deleterious	88\|12	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:29148574G>A_1_ENST00000373795

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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

Chr1:29148574G>A (GRCh38)

Gene symbol

SRSF4

Gene constraints

LOEUF: 0.31, LOF (oe): 0.15, misssense (oe): 0.59, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000373795.7

Genbank transcript ID

NM_005626 (exact from MANE)

UniProt / AlphaMissense peptide

SRSF4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1321C>T
g.33327C>T

AA changes

AAE:	R441W	?
Score:	101

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs181260012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	25	25

Protein conservation

Species	Match	AA	Alignment
Human		441	E	S	E	N	A	G	T	N	Q	E	T	R	S	R	S	R	S	N	S	K	S	K	P	N
mutated	not conserved	441	E	S	E	N	A	G	T	N	Q	E	T	W	S	R	S	R	S	N	S	K	S	K	P
Ptroglodytes	all identical	441	E	S	E	N	A	G	T	N	Q	E	T	R	S	R	S	R	S	N	S	K	S	K	P
Mmulatta	all identical	441	E	S	E	N	A	G	T	N	Q	E	T	R	S	R	S	R	S	N	S	K	S	K	P
Fcatus	all identical	446	E	S	A	D	A	G	A	H	Q	E	T	R	S	R	S	R	S	N	S	K	S	K	P
Mmusculus	all identical	438	E	G	E	S	E	A	P	N	P	E	P	R	A	R	S	R	S	T	S	K	S	K	P
Ggallus	all identical	441	E	G	E	D	A	A	A	H	V	A	S	R	S	R	S	R	S	I	S	K	S	K	P
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	all identical	329	R	D	R	S	A	S	A	E	N	K	S	R	S	R	S	R	S	R	S	A	S	P	K
Celegans	all identical	304	P	S	E	K	-	G	S	P	R	R	S	R	S	A	S
Xtropicalis	all conserved	518	S	S	D	H	SKGR	A	S	R	S	Q	S	K	D	R	A	N	G	R	D	K	S	A	D

Protein features

Start (aa)	End (aa)	Feature	Details
1	494	CHAIN		lost
169	494	REGION		lost
429	461	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.243	0.999
	4.678	1
(flanking)	1.619	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

1

Strand

-1

Original gDNA sequence snippet

CTGGCACCAATCAGGAGACCCGGTCCAGGTCGAGATCCAAT

Altered gDNA sequence snippet

CTGGCACCAATCAGGAGACCTGGTCCAGGTCGAGATCCAAT

Original cDNA sequence snippet

CTGGCACCAATCAGGAGACCCGGTCCAGGTCGAGATCCAAT

Altered cDNA sequence snippet

CTGGCACCAATCAGGAGACCTGGTCCAGGTCGAGATCCAAT

Wildtype AA sequence

MPRVYIGRLS YQARERDVER FFKGYGKILE VDLKNGYGFV EFDDLRDADD AVYELNGKDL
CGERVIVEHA RGPRRDGSYG SGRSGYGYRR SGRDKYGPPT RTEYRLIVEN LSSRCSWQDL
KDYMRQAGEV TYADAHKGRK NEGVIEFVSY SDMKRALEKL DGTEVNGRKI RLVEDKPGSR
RRRSYSRSRS HSRSRSRSRH SRKSRSRSGS SKSSHSKSRS RSRSGSRSRS KSRSRSQSRS
RSKKEKSRSP SKEKSRSRSH SAGKSRSKSK DQAEEKIQNN DNVGKPKSRS PSRHKSKSKS
RSRSQERRVE EEKRGSVSRG RSQEKSLRQS RSRSRSKGGS RSRSRSRSKS KDKRKGRKRS
REESRSRSRS RSKSERSRKR GSKRDSKAGS SKKKKKEDTD RSQSRSPSRS VSKEREHAKS
ESSQREGRGE SENAGTNQET RSRSRSNSKS KPNLPSESRS RSKSASKTRS RSKSRSRSAS
RSPSRSRSRS HSRS*

Mutated AA sequence

MPRVYIGRLS YQARERDVER FFKGYGKILE VDLKNGYGFV EFDDLRDADD AVYELNGKDL
CGERVIVEHA RGPRRDGSYG SGRSGYGYRR SGRDKYGPPT RTEYRLIVEN LSSRCSWQDL
KDYMRQAGEV TYADAHKGRK NEGVIEFVSY SDMKRALEKL DGTEVNGRKI RLVEDKPGSR
RRRSYSRSRS HSRSRSRSRH SRKSRSRSGS SKSSHSKSRS RSRSGSRSRS KSRSRSQSRS
RSKKEKSRSP SKEKSRSRSH SAGKSRSKSK DQAEEKIQNN DNVGKPKSRS PSRHKSKSKS
RSRSQERRVE EEKRGSVSRG RSQEKSLRQS RSRSRSKGGS RSRSRSRSKS KDKRKGRKRS
REESRSRSRS RSKSERSRKR GSKRDSKAGS SKKKKKEDTD RSQSRSPSRS VSKEREHAKS
ESSQREGRGE SENAGTNQET WSRSRSNSKS KPNLPSESRS RSKSASKTRS RSKSRSRSAS
RSPSRSRSRS HSRS*

Position of stopcodon in wt / mu CDS

1485 / 1485

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

495 / 495

Position of stopcodon in wt / mu cDNA

1633 / 1633

Position of start ATG in wt / mu cDNA

149 / 149

Last intron/exon boundary

816

Theoretical NMD boundary in CDS

617

Length of CDS

1485

Coding sequence (CDS) position

1321

cDNA position

1469

gDNA position

33327

Chromosomal position

29148574

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

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