MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000398776
MT speed 0.05 s - this script 2.50413 s

Transcript summary:

Permalink

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
ENST00000398776(MANE Select)	CAPN11	Benign	48\|52	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:44169433G>A_1_ENST00000398776

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:44169433G>A (GRCh38)

Gene symbol

CAPN11

Gene constraints

LOEUF: 1.19, LOF (oe): 1.01, misssense (oe): 0.94, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000398776.2

Genbank transcript ID

NM_007058 (exact from MANE)

UniProt / AlphaMissense peptide

CAN11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.241G>A
g.10623G>A

AA changes

AAE:	E81K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201806418
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	97	97

Protein conservation

Species	Match	AA	Alignment
Human		81	R	A	A	C	L	R	K	G	E	L	F	E	D	P	L	F	P	A	E	P	S	S	L	G
mutated	all conserved	81	R	A	A	C	L	R	K	G	E	L	F	K	D	P	L	F	P	A	E	P	S	S	L
Ptroglodytes	all identical	81	R	A	A	C	L	R	K	G	E	L	F	E	D	P	L	F	P	A	E	P	S	S	L
Mmulatta	no homologue
Fcatus	all identical	73	Q	A	T	C	L	R	K	G	E	L	F	E	D	S	F	F	P	A	E
Mmusculus	all identical	57	R	A	E	C	L	R	K	G	E	L	F	E	D	P	F	F	P	A	E	P	R	S
Ggallus	not conserved	50	K	Q	E	C	I	E	S	G	T	L	F	R	D	P	Q	F	P	A	G	P	T	A	L
Trubripes	all identical	89	K	Q	Q	C	V	E	S	G	C	L	F	E	D	P	C	F	P	A	E	P	P	S	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	50	K	Q	Q	C	R	E	S	G	S	L	F	E	D	P	N	F	P	P	I	G	S	S	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	739	CHAIN		lost
79	378	DOMAIN	Calpain catalytic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.77	0
	0.814	0.188
(flanking)	3.749	0.978

?

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

6

Strand

1

Original gDNA sequence snippet

TAAGAAAGGGGGAGCTCTTCGAGGACCCCTTATTCCCTGCT

Altered gDNA sequence snippet

TAAGAAAGGGGGAGCTCTTCAAGGACCCCTTATTCCCTGCT

Original cDNA sequence snippet

TAAGAAAGGGGGAGCTCTTCGAGGACCCCTTATTCCCTGCT

Altered cDNA sequence snippet

TAAGAAAGGGGGAGCTCTTCAAGGACCCCTTATTCCCTGCT

Wildtype AA sequence

MLYSPGPSLP ESAESLDGSQ EDKPRGSCAE PTFTDTGMVA HINNSRLKAK GVGQHDNAQN
FGNQSFEELR AACLRKGELF EDPLFPAEPS SLGFKDLGPN SKNVQNISWQ RPKDIINNPL
FIMDGISPTD ICQGILGDCW LLAAIGSLTT CPKLLYRVVP RGQSFKKNYA GIFHFQIWQF
GQWVNVVVDD RLPTKNDKLV FVHSTERSEF WSALLEKAYA KLSGSYEALS GGSTMEGLED
FTGGVAQSFQ LQRPPQNLLR LLRKAVERSS LMGCSIEVTS DSELESMTDK MLVRGHAYSV
TGLQDVHYRG KMETLIRVRN PWGRIEWNGA WSDSAREWEE VASDIQMQLL HKTEDGEFWM
SYQDFLNNFT LLEICNLTPD TLSGDYKSYW HTTFYEGSWR RGSSAGGCRN HPGTFWTNPQ
FKISLPEGDD PEDDAEGNVV VCTCLVALMQ KNWRHARQQG AQLQTIGFVL YAVPKEFQNI
QDVHLKKEFF TKYQDHGFSE IFTNSREVSS QLRLPPGEYI IIPSTFEPHR DADFLLRVFT
EKHSESWELD EVNYAEQLQE EKVSEDDMDQ DFLHLFKIVA GEGKEIGVYE LQRLLNRMAI
KFKSFKTKGF GLDACRCMIN LMDKDGSGKL GLLEFKILWK KLKKWMDIFR ECDQDHSGTL
NSYEMRLVIE KAGIKLNNKV MQVLVARYAD DDLIIDFDSF ISCFLRLKTM FTFFLTMDPK
NTGHICLSLE QWLQMTMWG*

Mutated AA sequence

MLYSPGPSLP ESAESLDGSQ EDKPRGSCAE PTFTDTGMVA HINNSRLKAK GVGQHDNAQN
FGNQSFEELR AACLRKGELF KDPLFPAEPS SLGFKDLGPN SKNVQNISWQ RPKDIINNPL
FIMDGISPTD ICQGILGDCW LLAAIGSLTT CPKLLYRVVP RGQSFKKNYA GIFHFQIWQF
GQWVNVVVDD RLPTKNDKLV FVHSTERSEF WSALLEKAYA KLSGSYEALS GGSTMEGLED
FTGGVAQSFQ LQRPPQNLLR LLRKAVERSS LMGCSIEVTS DSELESMTDK MLVRGHAYSV
TGLQDVHYRG KMETLIRVRN PWGRIEWNGA WSDSAREWEE VASDIQMQLL HKTEDGEFWM
SYQDFLNNFT LLEICNLTPD TLSGDYKSYW HTTFYEGSWR RGSSAGGCRN HPGTFWTNPQ
FKISLPEGDD PEDDAEGNVV VCTCLVALMQ KNWRHARQQG AQLQTIGFVL YAVPKEFQNI
QDVHLKKEFF TKYQDHGFSE IFTNSREVSS QLRLPPGEYI IIPSTFEPHR DADFLLRVFT
EKHSESWELD EVNYAEQLQE EKVSEDDMDQ DFLHLFKIVA GEGKEIGVYE LQRLLNRMAI
KFKSFKTKGF GLDACRCMIN LMDKDGSGKL GLLEFKILWK KLKKWMDIFR ECDQDHSGTL
NSYEMRLVIE KAGIKLNNKV MQVLVARYAD DDLIIDFDSF ISCFLRLKTM FTFFLTMDPK
NTGHICLSLE QWLQMTMWG*

Position of stopcodon in wt / mu CDS

2220 / 2220

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

740 / 740

Position of stopcodon in wt / mu cDNA

2249 / 2249

Position of start ATG in wt / mu cDNA

30 / 30

Last intron/exon boundary

2222

Theoretical NMD boundary in CDS

2142

Length of CDS

2220

Coding sequence (CDS) position

241

cDNA position

270

gDNA position

10623

Chromosomal position

44169433

Speed

0.05 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