MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000382073
MT speed 0.1 s - this script 2.545877 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
ENST00000382073(MANE Select)	CLEC6A	Deleterious	90\|10	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

12:8465590G>A_1_ENST00000382073

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:8465590G>A (GRCh38)

Gene symbol

CLEC6A

Gene constraints

LOEUF: 1.27, LOF (oe): 0.73, misssense (oe): 1.04, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000382073.4

Genbank transcript ID

NM_001007033 (exact from MANE), NM_001317999 (by similarity)

UniProt / AlphaMissense peptide

CLC6A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.330G>A
g.9629G>A

AA changes

AAE:	M110I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141203382
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	129	129

Protein conservation

Species	Match	AA	Alignment
Human		110	V	W	S	K	S	E	Q	N	C	V	E	M	G	A	H	L	V	V	F	N	T	E	A	E
mutated	all conserved	110	V	W	S	K	S	E	Q	N	C	V	E	I	G	A	H	L	V	V	F	N	T	E
Ptroglodytes	all identical	110	V	W	S	K	S	E	Q	N	C	V	E	M	G	A	H	F	V	V	F	N	T	E
Mmulatta	all identical	110	V	W	S	K	S	E	Q	N	C	V	E	M	G	A	H	L	V	V	F	N	T	E
Fcatus	all identical	111	F	W	S	K	S	E	Q	N	C	V	A	M	G	A	H	L	V	V	I
Mmusculus	all identical	108	F	W	S	T	S	E	Q	N	C	V	Q	M	G	A	H	L	V	V	I	N
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	209	CHAIN		lost
42	209	TOPO_DOM	Extracellular	lost
86	203	DOMAIN	C-type lectin	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.95	0.995
	2.287	1
(flanking)	2.936	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

12

Strand

1

Original gDNA sequence snippet

GAGCAGAACTGTGTTGAGATGGGAGCACATTTGGTTGTGTT

Altered gDNA sequence snippet

GAGCAGAACTGTGTTGAGATAGGAGCACATTTGGTTGTGTT

Original cDNA sequence snippet

GAGCAGAACTGTGTTGAGATGGGAGCACATTTGGTTGTGTT

Altered cDNA sequence snippet

GAGCAGAACTGTGTTGAGATAGGAGCACATTTGGTTGTGTT

Wildtype AA sequence

MMQEQQPQST EKRGWLSLRL WSVAGISIAL LSACFIVSCV VTYHFTYGET GKRLSELHSY
HSSLTCFSEG TKVPAWGCCP ASWKSFGSSC YFISSEEKVW SKSEQNCVEM GAHLVVFNTE
AEQNFIVQQL NESFSYFLGL SDPQGNNNWQ WIDKTPYEKN VRFWHLGEPN HSAEQCASIV
FWKPTGWGWN DVICETRRNS ICEMNKIYL*

Mutated AA sequence

MMQEQQPQST EKRGWLSLRL WSVAGISIAL LSACFIVSCV VTYHFTYGET GKRLSELHSY
HSSLTCFSEG TKVPAWGCCP ASWKSFGSSC YFISSEEKVW SKSEQNCVEI GAHLVVFNTE
AEQNFIVQQL NESFSYFLGL SDPQGNNNWQ WIDKTPYEKN VRFWHLGEPN HSAEQCASIV
FWKPTGWGWN DVICETRRNS ICEMNKIYL*

Position of stopcodon in wt / mu CDS

630 / 630

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

210 / 210

Position of stopcodon in wt / mu cDNA

780 / 780

Position of start ATG in wt / mu cDNA

151 / 151

Last intron/exon boundary

635

Theoretical NMD boundary in CDS

434

Length of CDS

630

Coding sequence (CDS) position

330

cDNA position

480

gDNA position

9629

Chromosomal position

8465590

Speed

0.10 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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