MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000553635
Querying Taster for transcript #2: ENST00000555349
Querying Taster for transcript #3: ENST00000554021
Querying Taster for transcript #4: ENST00000557154
Querying Taster for transcript #5: ENST00000553548
Querying Taster for transcript #6: ENST00000394366
Querying Taster for transcript #7: ENST00000553521
MT speed 0.5 s - this script 2.91869 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000553548	SRSF5	Undetermined	50\|50	3utr	No	Single base exchange	N/A
ENST00000557154(MANE Select)	SRSF5	Deleterious	77\|23	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000553635	SRSF5	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000555349	SRSF5	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000554021	SRSF5	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000394366	SRSF5	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000553521	SRSF5	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

14:69769187C>T_5_ENST00000553548

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Prediction:

UndeterminedPermalink

Summary:

Model: 3utr
Tree vote: 50|50 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.36, LOF (oe): 0.07, misssense (oe): 0.43, synonymous (oe): 1.17 ? (gnomAD)

Ensembl transcript ID

ENST00000553548.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.524C>T
g.42288C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTC

Altered cDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTC

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

164 / 164

Last intron/exon boundary

459

Theoretical NMD boundary in CDS

245

Length of CDS

300

Coding sequence (CDS) position

N/A

cDNA position

524

gDNA position

42288

Chromosomal position

69769187

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

MutationT@ster 2025

Variant:

14:69769187C>T_4_ENST00000557154

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 77|23 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.32, LOF (oe): 0.15, misssense (oe): 0.60, synonymous (oe): 1.31 ? (gnomAD)

Ensembl transcript ID

ENST00000557154.6

Genbank transcript ID

NM_001320214 (exact from MANE), NM_006925 (by similarity)

UniProt / AlphaMissense peptide

SRSF5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.302C>T
g.42288C>T

AA changes

AAE:	A101V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	101	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
Ptroglodytes	all identical	101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V
Mmulatta	all identical	101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V
Fcatus	all identical	101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V
Mmusculus	all identical	101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V
Ggallus	all identical	101	S	S	R	R	P	R	S	D	R	R	S	A	P	P	L	R	T	E	N	R	L	I	V
Trubripes	not conserved	101	G	R	G	S	Q	S	S	R	S	R	N	P	P	P	V	R	T	E	N	R	L	I	V
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	101	S	S	R	R	P	R	G	D	R	-	S	A	P	P	I	R	T	E	N	R	L	I	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	272	CHAIN		lost
73	104	COMPBIAS	Basic and acidic residues	lost
73	105	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN APPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN VPPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Position of stopcodon in wt / mu CDS

819 / 819

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

273 / 273

Position of stopcodon in wt / mu cDNA

952 / 952

Position of start ATG in wt / mu cDNA

134 / 134

Last intron/exon boundary

684

Theoretical NMD boundary in CDS

500

Length of CDS

819

Coding sequence (CDS) position

302

cDNA position

435

gDNA position

42288

Chromosomal position

69769187

Speed

0.08 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:

14:69769187C>T_1_ENST00000553635

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.36, LOF (oe): 0.18, misssense (oe): 0.61, synonymous (oe): 1.31 ? (gnomAD)

Ensembl transcript ID

ENST00000553635.5

Genbank transcript ID

UniProt / AlphaMissense peptide

SRSF5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.293C>T
g.42288C>T

AA changes

AAE:	A98V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		98	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	98	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
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	272	CHAIN		lost
73	104	COMPBIAS	Basic and acidic residues	lost
73	105	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVDPRDADDA VYELDGKELC
SERVTIEHAR ARSRGGRGRG RYSDRFSSRR PRNDRRNAPP VRTENRLIVE NLSSRVSWQD
LKDFMRQAGE VTFADAHRPK LNEGVVEFAS YGDLKNAIEK LSGKEINGRK IKLIEGSKRH
SRSRSRSRSR TRSSSRSRSR SRSRSRKSYS RSRSRSRSRS RSKSRSVSRS PVPEKSQKRG
SSSRSKSPAS VDRQRSRSRS RSRSVDSGN*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVDPRDADDA VYELDGKELC
SERVTIEHAR ARSRGGRGRG RYSDRFSSRR PRNDRRNVPP VRTENRLIVE NLSSRVSWQD
LKDFMRQAGE VTFADAHRPK LNEGVVEFAS YGDLKNAIEK LSGKEINGRK IKLIEGSKRH
SRSRSRSRSR TRSSSRSRSR SRSRSRKSYS RSRSRSRSRS RSKSRSVSRS PVPEKSQKRG
SSSRSKSPAS VDRQRSRSRS RSRSVDSGN*

Position of stopcodon in wt / mu CDS

810 / 810

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

270 / 270

Position of stopcodon in wt / mu cDNA

924 / 924

Position of start ATG in wt / mu cDNA

115 / 115

Last intron/exon boundary

656

Theoretical NMD boundary in CDS

491

Length of CDS

810

Coding sequence (CDS) position

293

cDNA position

407

gDNA position

42288

Chromosomal position

69769187

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

MutationT@ster 2025

Variant:

14:69769187C>T_2_ENST00000555349

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.27, LOF (oe): 0.06, misssense (oe): 0.46, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000555349.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.302C>T
g.42288C>T

AA changes

AAE:	A101V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	101	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN APPVRTENRL IVENLSSRVS
WQVC*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN VPPVRTENRL IVENLSSRVS
WQVC*

Position of stopcodon in wt / mu CDS

375 / 375

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

125 / 125

Position of stopcodon in wt / mu cDNA

442 / 442

Position of start ATG in wt / mu cDNA

68 / 68

Last intron/exon boundary

363

Theoretical NMD boundary in CDS

245

Length of CDS

375

Coding sequence (CDS) position

302

cDNA position

369

gDNA position

42288

Chromosomal position

69769187

Speed

0.08 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:

14:69769187C>T_3_ENST00000554021

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.51, synonymous (oe): 1.20 ? (gnomAD)

Ensembl transcript ID

ENST00000554021.1

Genbank transcript ID

NM_001411040 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.302C>T
g.42288C>T

AA changes

AAE:	A101V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	101	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN APPVRTENRL IVENLSSRVS
WQPVCVVGLM TRSACGLS*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN VPPVRTENRL IVENLSSRVS
WQPVCVVGLM TRSACGLS*

Position of stopcodon in wt / mu CDS

417 / 417

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

139 / 139

Position of stopcodon in wt / mu cDNA

484 / 484

Position of start ATG in wt / mu cDNA

68 / 68

Last intron/exon boundary

433

Theoretical NMD boundary in CDS

315

Length of CDS

417

Coding sequence (CDS) position

302

cDNA position

369

gDNA position

42288

Chromosomal position

69769187

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

MutationT@ster 2025

Variant:

14:69769187C>T_6_ENST00000394366

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.32, LOF (oe): 0.15, misssense (oe): 0.60, synonymous (oe): 1.31 ? (gnomAD)

Ensembl transcript ID

ENST00000394366.6

Genbank transcript ID

NM_001039465 (by similarity)

UniProt / AlphaMissense peptide

SRSF5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.302C>T
g.42288C>T

AA changes

AAE:	A101V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	101	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
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	272	CHAIN		lost
73	104	COMPBIAS	Basic and acidic residues	lost
73	105	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN APPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN VPPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Position of stopcodon in wt / mu CDS

819 / 819

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

273 / 273

Position of stopcodon in wt / mu cDNA

1126 / 1126

Position of start ATG in wt / mu cDNA

308 / 308

Last intron/exon boundary

858

Theoretical NMD boundary in CDS

500

Length of CDS

819

Coding sequence (CDS) position

302

cDNA position

609

gDNA position

42288

Chromosomal position

69769187

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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MutationT@ster 2025

Variant:

14:69769187C>T_7_ENST00000553521

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr14:69769187C>T (GRCh38)

Gene symbol

SRSF5

Gene constraints

LOEUF: 0.32, LOF (oe): 0.15, misssense (oe): 0.60, synonymous (oe): 1.31 ? (gnomAD)

Ensembl transcript ID

ENST00000553521.5

Genbank transcript ID

UniProt / AlphaMissense peptide

SRSF5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.302C>T
g.42288C>T

AA changes

AAE:	A101V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141618226
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		101	S	S	R	R	P	R	N	D	R	R	N	A	P	P	V	R	T	E	N	R	L	I	V	E
mutated	not conserved	101	S	S	R	R	P	R	N	D	R	R	N	V	P	P	V	R	T	E	N	R	L	I	V
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	272	CHAIN		lost
73	104	COMPBIAS	Basic and acidic residues	lost
73	105	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.073	1
	4.901	1
(flanking)	0.882	0.992

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

14

Strand

1

Original gDNA sequence snippet

AATTTTCTTCCTCAGAAATGCTCCACCTGTAAGAACAGAAA

Altered gDNA sequence snippet

AATTTTCTTCCTCAGAAATGTTCCACCTGTAAGAACAGAAA

Original cDNA sequence snippet

TCGAAATGATAGACGAAATGCTCCACCTGTAAGAACAGAAA

Altered cDNA sequence snippet

TCGAAATGATAGACGAAATGTTCCACCTGTAAGAACAGAAA

Wildtype AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN APPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Mutated AA sequence

MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA DDAVYELDGK
ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN VPPVRTENRL IVENLSSRVS
WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE FASYGDLKNA IEKLSGKEIN GRKIKLIEGS
KRHSRSRSRS RSRTRSSSRS RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ
KRGSSSRSKS PASVDRQRSR SRSRSRSVDS GN*

Position of stopcodon in wt / mu CDS

819 / 819

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

273 / 273

Position of stopcodon in wt / mu cDNA

2272 / 2272

Position of start ATG in wt / mu cDNA

1454 / 1454

Last intron/exon boundary

2004

Theoretical NMD boundary in CDS

500

Length of CDS

819

Coding sequence (CDS) position

302

cDNA position

1755

gDNA position

42288

Chromosomal position

69769187

Speed

0.06 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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