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: ENST00000221700
Querying Taster for transcript #2: ENST00000011989
MT speed 0.21 s - this script 2.656487 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
ENST00000221700(MANE Select)	CYP4F2	Deleterious	74\|26	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000011989	CYP4F2	Deleterious	74\|26	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

19:15879621C>A_1_ENST00000221700

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 74|26 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:15879621C>A (GRCh38)

Gene symbol

CYP4F2

Gene constraints

LOEUF: 1.20, LOF (oe): 0.96, misssense (oe): 0.89, synonymous (oe): 1.10 ? (gnomAD)

Ensembl transcript ID

ENST00000221700.11

Genbank transcript ID

NM_001082 (exact from MANE)

UniProt / AlphaMissense peptide

CP4F2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1297G>T
g.18457G>T

AA changes

AAE:	V433L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		433	I	S	V	F	G	T	H	H	N	P	A	V	W	P	D	P	E	V	Y	D	P	F	R	F
mutated	all conserved	433	I	S	V	F	G	T	H	H	N	P	A	L	W	P	D	P	E	V	Y	D	P	F	R
Ptroglodytes	all identical	433	I	S	V	F	G	T	H	H	N	P	A	V	W	P	D	P	E	V	Y	D	P	F	R
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	all identical	433	I	S	I	F	G	I	H	H	N	P	S	V	W	P	D	P	E	V	Y	D	P	F	R
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
5	520	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.475	1
	1.681	0.87
(flanking)	-1.675	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

GAACCCATCACAACCCAGCTGTGTGGCCGGACCCTGAGGTG

Altered gDNA sequence snippet

GAACCCATCACAACCCAGCTTTGTGGCCGGACCCTGAGGTG

Original cDNA sequence snippet

GAACCCATCACAACCCAGCTGTGTGGCCGGACCCTGAGGTC

Altered cDNA sequence snippet

GAACCCATCACAACCCAGCTTTGTGGCCGGACCCTGAGGTC

Wildtype AA sequence

MSQLSLSWLG LWPVAASPWL LLLLVGASWL LAHVLAWTYA FYDNCRRLRC FPQPPRRNWF
WGHQGMVNPT EEGMRVLTQL VATYPQGFKV WMGPISPLLS LCHPDIIRSV INASAAIAPK
DKFFYSFLEP WLGDGLLLSA GDKWSRHRRM LTPAFHFNIL KPYMKIFNES VNIMHAKWQL
LASEGSACLD MFEHISLMTL DSLQKCVFSF DSHCQEKPSE YIAAILELSA LVSKRHHEIL
LHIDFLYYLT PDGQRFRRAC RLVHDFTDAV IQERRRTLPS QGVDDFLQAK AKSKTLDFID
VLLLSKDEDG KKLSDEDIRA EADTFMFEGH DTTASGLSWV LYHLAKHPEY QERCRQEVQE
LLKDREPKEI EWDDLAHLPF LTMCMKESLR LHPPVPVISR HVTQDIVLPD GRVIPKGIIC
LISVFGTHHN PAVWPDPEVY DPFRFDPENI KERSPLAFIP FSAGPRNCIG QTFAMAEMKV
VLALTLLRFR VLPDHTEPRR KPELVLRAEG GLWLRVEPLS *

Mutated AA sequence

MSQLSLSWLG LWPVAASPWL LLLLVGASWL LAHVLAWTYA FYDNCRRLRC FPQPPRRNWF
WGHQGMVNPT EEGMRVLTQL VATYPQGFKV WMGPISPLLS LCHPDIIRSV INASAAIAPK
DKFFYSFLEP WLGDGLLLSA GDKWSRHRRM LTPAFHFNIL KPYMKIFNES VNIMHAKWQL
LASEGSACLD MFEHISLMTL DSLQKCVFSF DSHCQEKPSE YIAAILELSA LVSKRHHEIL
LHIDFLYYLT PDGQRFRRAC RLVHDFTDAV IQERRRTLPS QGVDDFLQAK AKSKTLDFID
VLLLSKDEDG KKLSDEDIRA EADTFMFEGH DTTASGLSWV LYHLAKHPEY QERCRQEVQE
LLKDREPKEI EWDDLAHLPF LTMCMKESLR LHPPVPVISR HVTQDIVLPD GRVIPKGIIC
LISVFGTHHN PALWPDPEVY DPFRFDPENI KERSPLAFIP FSAGPRNCIG QTFAMAEMKV
VLALTLLRFR VLPDHTEPRR KPELVLRAEG GLWLRVEPLS *

Position of stopcodon in wt / mu CDS

1563 / 1563

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

521 / 521

Position of stopcodon in wt / mu cDNA

1613 / 1613

Position of start ATG in wt / mu cDNA

51 / 51

Last intron/exon boundary

1447

Theoretical NMD boundary in CDS

1346

Length of CDS

1563

Coding sequence (CDS) position

1297

cDNA position

1347

gDNA position

18457

Chromosomal position

15879621

Speed

0.12 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:

19:15879621C>A_2_ENST00000011989

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 74|26 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:15879621C>A (GRCh38)

Gene symbol

CYP4F2

Gene constraints

LOEUF: 1.21, LOF (oe): 0.96, misssense (oe): 0.88, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000011989.11

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1297G>T
g.18457G>T

AA changes

AAE:	V433L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		433	I	S	V	F	G	T	H	H	N	P	A	V	W	P	D	P	E	V	Y	D	P	F	R	F
mutated	all conserved	433	I	S	V	F	G	T	H	H	N	P	A	L	W	P	D	P	E	V	Y	D	P	F	R
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)	6.475	1
	1.681	0.87
(flanking)	-1.675	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

GAACCCATCACAACCCAGCTGTGTGGCCGGACCCTGAGGTG

Altered gDNA sequence snippet

GAACCCATCACAACCCAGCTTTGTGGCCGGACCCTGAGGTG

Original cDNA sequence snippet

GAACCCATCACAACCCAGCTGTGTGGCCGGACCCTGAGGTC

Altered cDNA sequence snippet

GAACCCATCACAACCCAGCTTTGTGGCCGGACCCTGAGGTC

Wildtype AA sequence

MSQLSLSWLG LWPVAASPWL LLLLVGASWL LAHVLAWTYA FYDNCRRLRC FPQPPRRNWF
WGHQGMIHSS EEGLLYTQSL ACTFGDMGCW WVGPWQAVIH IFLPTCIKPV LFAPAAIAPK
DKFFYSFLEP WLGDGLLLSA GDKWSRHRRM LTPAFHFNIL KPYMKIFNES VNIMHAKWQL
LASEGSACLD MFEHISLMTL DSLQKCVFSF DSHCQEKPSE YIAAILELSA LVSKRHHEIL
LHIDFLYYLT PDGQRFRRAC RLVHDFTDAV IQERRRTLPS QGVDDFLQAK AKSKTLDFID
VLLLSKDEDG KKLSDEDIRA EADTFMFEGH DTTASGLSWV LYHLAKHPEY QERCRQEVQE
LLKDREPKEI EWDDLAHLPF LTMCMKESLR LHPPVPVISR HVTQDIVLPD GRVIPKGIIC
LISVFGTHHN PAVWPDPEVY DPFRFDPENI KERSPLAFIP FSAGPRNCIG QTFAMAEMKV
VLALTLLRFR VLPDHTEPRR KPELVLRAEG GLWLRVEPLS *

Mutated AA sequence

MSQLSLSWLG LWPVAASPWL LLLLVGASWL LAHVLAWTYA FYDNCRRLRC FPQPPRRNWF
WGHQGMIHSS EEGLLYTQSL ACTFGDMGCW WVGPWQAVIH IFLPTCIKPV LFAPAAIAPK
DKFFYSFLEP WLGDGLLLSA GDKWSRHRRM LTPAFHFNIL KPYMKIFNES VNIMHAKWQL
LASEGSACLD MFEHISLMTL DSLQKCVFSF DSHCQEKPSE YIAAILELSA LVSKRHHEIL
LHIDFLYYLT PDGQRFRRAC RLVHDFTDAV IQERRRTLPS QGVDDFLQAK AKSKTLDFID
VLLLSKDEDG KKLSDEDIRA EADTFMFEGH DTTASGLSWV LYHLAKHPEY QERCRQEVQE
LLKDREPKEI EWDDLAHLPF LTMCMKESLR LHPPVPVISR HVTQDIVLPD GRVIPKGIIC
LISVFGTHHN PALWPDPEVY DPFRFDPENI KERSPLAFIP FSAGPRNCIG QTFAMAEMKV
VLALTLLRFR VLPDHTEPRR KPELVLRAEG GLWLRVEPLS *

Position of stopcodon in wt / mu CDS

1563 / 1563

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

521 / 521

Position of stopcodon in wt / mu cDNA

1596 / 1596

Position of start ATG in wt / mu cDNA

34 / 34

Last intron/exon boundary

1430

Theoretical NMD boundary in CDS

1346

Length of CDS

1563

Coding sequence (CDS) position

1297

cDNA position

1330

gDNA position

18457

Chromosomal position

15879621

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

Back to summary table