MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000293636
MT speed 0.46 s - this script 2.929482 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
ENST00000293636(MANE Select)	CELA1	Deleterious	59\|41	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

12:51339873C>A_1_ENST00000293636

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 59|41 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:51339873C>A (GRCh38)

Gene symbol

CELA1

Gene constraints

LOEUF: 1.27, LOF (oe): 0.92, misssense (oe): 0.90, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000293636.2

Genbank transcript ID

NM_001971 (exact from MANE)

UniProt / AlphaMissense peptide

CELA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.596G>T
g.6807G>T

AA changes

AAE:	R199L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs774388922
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	5	5

Protein conservation

Species	Match	AA	Alignment
Human		199	N	T	M	V	C	A	G	G	D	G	V	R	S	G	C	Q	G	D	S	G	G	P	L	H
mutated	not conserved	199	N	T	M	V	C	A	G	G	D	G	V	L	S	G	C	Q	G	D	S	G	G	P	L
Ptroglodytes	all identical	199	N	T	M	V	C	A	G	G	D	G	V	R	S	G	C	Q	G	D	S	G	G	P	L
Mmulatta	not conserved	199	N	T	M	V	C	A	G	G	D	G	V	H	S	G	C	Q	G	D	S	G	G	P	L
Fcatus	all identical	209	S	T	M	V	C	A	G	G	D	G	I	R	S	G	C	Q	G	D	S	G	G	P	L
Mmusculus	all identical	207	N	T	M	V	C	A	G	G	D	G	V	R	S	G	C	Q	G	D	S	G	G	P	L
Ggallus	all identical	207	D	T	M	I	C	A	G	G	D	G	V	R	S	G	C	Q	G	D	S	G	G	P	L
Trubripes	all conserved	213										G	S	Q	S	G	C	N	G	D	F	G	G	P	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	215					C	A	G	G	D	G	V	R	S	G	C	Q	G	D	S	G	G	P	L

Protein features

Start (aa)	End (aa)	Feature	Details
19	256	DOMAIN	Peptidase S1	lost
19	258	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.031	0.002
	-0.219	0
(flanking)	-0.058	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

14

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

TGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAGGTGAACA

Altered gDNA sequence snippet

TGCTGGTGGAGATGGAGTTCTCTCTGGATGCCAGGTGAACA

Original cDNA sequence snippet

TGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAGGGTGACT

Altered cDNA sequence snippet

TGCTGGTGGAGATGGAGTTCTCTCTGGATGCCAGGGTGACT

Wildtype AA sequence

MLVLYGHSTQ DLPETNARVV GGTEAGRNSW PSQISLQYRS GGSRYHTCGG TLIRQNWVMT
AAHCVDYQKT FRVVAGDHNL SQNDGTEQYV SVQKIVVHPY WNSDNVAAGY DIALLRLAQS
VTLNSYVQLG VLPQEGAILA NNSPCYITGW GKTKTNGQLA QTLQQAYLPS VDYAICSSSS
YWGSTVKNTM VCAGGDGVRS GCQGDSGGPL HCLVNGKYSV HGVTSFVSSR GCNVSRKPTV
FTQVSAYISW INNVIASN*

Mutated AA sequence

MLVLYGHSTQ DLPETNARVV GGTEAGRNSW PSQISLQYRS GGSRYHTCGG TLIRQNWVMT
AAHCVDYQKT FRVVAGDHNL SQNDGTEQYV SVQKIVVHPY WNSDNVAAGY DIALLRLAQS
VTLNSYVQLG VLPQEGAILA NNSPCYITGW GKTKTNGQLA QTLQQAYLPS VDYAICSSSS
YWGSTVKNTM VCAGGDGVLS GCQGDSGGPL HCLVNGKYSV HGVTSFVSSR GCNVSRKPTV
FTQVSAYISW INNVIASN*

Position of stopcodon in wt / mu CDS

777 / 777

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

259 / 259

Position of stopcodon in wt / mu cDNA

818 / 818

Position of start ATG in wt / mu cDNA

42 / 42

Last intron/exon boundary

800

Theoretical NMD boundary in CDS

708

Length of CDS

777

Coding sequence (CDS) position

596

cDNA position

637

gDNA position

6807

Chromosomal position

51339873

Speed

0.46 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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