MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000243167
MT speed 0.35 s - this script 2.809074 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
ENST00000243167(MANE Select)	FAAH	Benign	54\|46	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

1:46405089C>A_1_ENST00000243167

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr1:46405089C>A (GRCh38)

Gene symbol

FAAH

Gene constraints

LOEUF: 1.15, LOF (oe): 0.93, misssense (oe): 0.94, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000243167.9

Genbank transcript ID

NM_001441 (exact from MANE)

UniProt / AlphaMissense peptide

FAAH1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.385C>A
g.10773C>A

AA changes

AAE:	P129T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs324420
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		129	L	A	D	C	E	T	Q	L	S	Q	A	P	R	Q	G	L	L	Y	G	V	P	V	S	L
mutated	not conserved	129				C	E	T	Q	L	S	Q	A	T	R	Q	G	L	L	Y	G	V	P	V	S
Ptroglodytes	all identical	129				C	E	T	Q	L	S	Q	A	P	R	Q	G	L	L	Y	G	V	P	V	S
Mmulatta	all identical	528								L	S	Q	A	P	R	Q	G	L	L	Y	G	V	P	V	S
Fcatus	all identical	129				C	E	T	Q	L	S	Q	A	P	K	Q	G	L	L	Y	G	V	P	V	S
Mmusculus	all identical	129				C	E	T	Q	L	S	Q	A	P	R	Q	G	L	L	Y	G	V	P	V	S
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	not conserved	644		A	S	C	Q	TAA	E	V	E	K	L	F	E	E	R	P	L	L	G	L	P	V	T
Celegans	not conserved	689	I	L	D	A	E	R	Q	A	E	E	L	D	E	Q	A	K	LPYYVKPPL	F	G	V	P	L	S
Xtropicalis	not conserved	127	L	P	E	C	E	T	Q	L	V	H	L	R	G	QKTK	G	L	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	579	CHAIN		lost
30	403	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.923	0
	-0.386	0
(flanking)	1.296	0

?

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

AGACTCAGCTGTCTCAGGCCCCAAGGCAGGGCCTGCTCTAT

Altered gDNA sequence snippet

AGACTCAGCTGTCTCAGGCCACAAGGCAGGGCCTGCTCTAT

Original cDNA sequence snippet

AGACTCAGCTGTCTCAGGCCCCAAGGCAGGGCCTGCTCTAT

Altered cDNA sequence snippet

AGACTCAGCTGTCTCAGGCCACAAGGCAGGGCCTGCTCTAT

Wildtype AA sequence

MVQYELWAAL PGASGVALAC CFVAAAVALR WSGRRTARGA VVRARQRQRA GLENMDRAAQ
RFRLQNPDLD SEALLALPLP QLVQKLHSRE LAPEAVLFTY VGKAWEVNKG TNCVTSYLAD
CETQLSQAPR QGLLYGVPVS LKECFTYKGQ DSTLGLSLNE GVPAECDSVV VHVLKLQGAV
PFVHTNVPQS MFSYDCSNPL FGQTVNPWKS SKSPGGSSGG EGALIGSGGS PLGLGTDIGG
SIRFPSSFCG ICGLKPTGNR LSKSGLKGCV YGQEAVRLSV GPMARDVESL ALCLRALLCE
DMFRLDPTVP PLPFREEVYT SSQPLRVGYY ETDNYTMPSP AMRRAVLETK QSLEAAGHTL
VPFLPSNIPH ALETLSTGGL FSDGGHTFLQ NFKGDFVDPC LGDLVSILKL PQWLKGLLAF
LVKPLLPRLS AFLSNMKSRS AGKLWELQHE IEVYRKTVIA QWRALDLDVV LTPMLAPALD
LNAPGRATGA VSYTMLYNCL DFPAGVVPVT TVTAEDEAQM EHYRGYFGDI WDKMLQKGMK
KSVGLPVAVQ CVALPWQEEL CLRFMREVER LMTPEKQSS*

Mutated AA sequence

MVQYELWAAL PGASGVALAC CFVAAAVALR WSGRRTARGA VVRARQRQRA GLENMDRAAQ
RFRLQNPDLD SEALLALPLP QLVQKLHSRE LAPEAVLFTY VGKAWEVNKG TNCVTSYLAD
CETQLSQATR QGLLYGVPVS LKECFTYKGQ DSTLGLSLNE GVPAECDSVV VHVLKLQGAV
PFVHTNVPQS MFSYDCSNPL FGQTVNPWKS SKSPGGSSGG EGALIGSGGS PLGLGTDIGG
SIRFPSSFCG ICGLKPTGNR LSKSGLKGCV YGQEAVRLSV GPMARDVESL ALCLRALLCE
DMFRLDPTVP PLPFREEVYT SSQPLRVGYY ETDNYTMPSP AMRRAVLETK QSLEAAGHTL
VPFLPSNIPH ALETLSTGGL FSDGGHTFLQ NFKGDFVDPC LGDLVSILKL PQWLKGLLAF
LVKPLLPRLS AFLSNMKSRS AGKLWELQHE IEVYRKTVIA QWRALDLDVV LTPMLAPALD
LNAPGRATGA VSYTMLYNCL DFPAGVVPVT TVTAEDEAQM EHYRGYFGDI WDKMLQKGMK
KSVGLPVAVQ CVALPWQEEL CLRFMREVER LMTPEKQSS*

Position of stopcodon in wt / mu CDS

1740 / 1740

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

580 / 580

Position of stopcodon in wt / mu cDNA

1772 / 1772

Position of start ATG in wt / mu cDNA

33 / 33

Last intron/exon boundary

1643

Theoretical NMD boundary in CDS

1560

Length of CDS

1740

Coding sequence (CDS) position

385

cDNA position

417

gDNA position

10773

Chromosomal position

46405089

Speed

0.35 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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