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: ENST00000348616
MT speed 0.05 s - this script 2.506201 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
ENST00000348616(MANE Select)	CDH26	Benign	41\|59	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

20:59970088A>C_1_ENST00000348616

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr20:59970088A>C (GRCh38)

Gene symbol

CDH26

Gene constraints

LOEUF: 1.03, LOF (oe): 0.85, misssense (oe): 0.93, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000348616.9

Genbank transcript ID

NM_177980 (exact from MANE)

UniProt / AlphaMissense peptide

CAD26_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.133A>C
g.11666A>C

AA changes

AAE:	I45L	?
Score:	5

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		45	T	D	D	L	T	K	Q	T	K	E	K	I	Y	Q	P	L	R	R	S	K	R	R	W	V
mutated	all conserved	45	T	D	D	L	T	K	Q	T	K	E	K	L	Y	Q	P	L	R	R	S	K	R	R	W
Ptroglodytes	all identical	45	T	D	D	L	T	K	Q	T	K	E	K	I	Y	Q	P	L	R	R	S	K	R	R	W
Mmulatta	not conserved	30	T	D	D	L	T	K	Q	T	K	G	K	S	Y	Q	P	L	R	R	S	K	R	R	W
Fcatus	not conserved	45	N	D	D	L	P	Q	Q	T	K	G	E	S	H	R	P	L	R	R	S	K	R	R	W
Mmusculus	no alignment	n/a
Ggallus	no homologue
Trubripes	not conserved	45	F	G	A	F	P	R	T	T	KGRY	E	D	S	R	T	P	L	V	R	T	K	R	R	W
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	69	K	R	S	L	-	-	E	A	R	E	H	L	-	K	P	L	R	R	S	K	R	R	W

Protein features

Start (aa)	End (aa)	Feature	Details
28	614	TOPO_DOM	Extracellular	lost
28	832	CHAIN		lost
35	165	DOMAIN	Cadherin	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.32	0.71
	0.798	0.53
(flanking)	0.37	0.327

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

20

Strand

1

Original gDNA sequence snippet

ACTATAAGTTCCAGGAAAAGATCTACCAGCCTCTACGGCGA

Altered gDNA sequence snippet

ACTATAAGTTCCAGGAAAAGCTCTACCAGCCTCTACGGCGA

Original cDNA sequence snippet

CTAAGCAAACAAAGGAAAAGATCTACCAGCCTCTACGGCGA

Altered cDNA sequence snippet

CTAAGCAAACAAAGGAAAAGCTCTACCAGCCTCTACGGCGA

Wildtype AA sequence

MAMRSGRHPS LLLLLVLLLW LLQVSIIDSV QQETDDLTKQ TKEKIYQPLR RSKRRWVITT
LELEEEDPGP FPKLIGELFN NMSYNMSLMY LISGPGVDEY PEIGLFSLED HENGRIYVHR
PVDREMTPSF TVYFDVVERS TGKIVDTSLI FNIRISDVND HAPQFPEKEF NITVQENQSA
GQPIFQMLAV DLDEENTPNS QVLYFLISQT PLLKESGFRV DRLSGEIRLS GCLDYETAPQ
FTLLIRARDC GEPSLSSTTT VHVDVQEGNN HRPAFTQENY KVQIPEGRAS QGVLRLLVQD
RDSPFTSAWR AKFNILHGNE EGHFDISTDP ETNEGILNVI KPLDYETRPA QSLIIVVENE
ERLVFCERGK LQPPRKAAAS ATVSVQVTDA NDPPAFHPQS FIVNKEEGAR PGTLLGTFNA
MDPDSQIRYE LVHDPANWVS VDKNSGVVIT VEPIDRESPH VNNSFYVIII HAVDDGFPPQ
TATGTLMLFL SDINDNVPTL RPRSRYMEVC ESAVHEPLHI EAEDPDLEPF SDPFTFELDN
TWGNAEDTWK LGRNWGQSVE LLTLRSLPRG NYLVPLFIGD KQGLSQKQTV HVRICPCASG
LTCVELADAE VGLHVGALFP VCAAFVALAV ALLFLLRCYF VLEPKRHGCS VSNDEGHQTL
VMYNAESKGT SAQTWSDVEG QRPALLICTA AAGPTQGVKD LEEVPPSAAS QSAQARCALG
SWGYGKPFEP RSVKNIHSTP AYPDATMHRQ LLAPVEGRMA ETLNQKLHVA NVLEDDPGYL
PHVYSEEGEC GGAPSLSSLA SLEQELQPDL LDSLGSKATP FEEIYSESGV PS*

Mutated AA sequence

MAMRSGRHPS LLLLLVLLLW LLQVSIIDSV QQETDDLTKQ TKEKLYQPLR RSKRRWVITT
LELEEEDPGP FPKLIGELFN NMSYNMSLMY LISGPGVDEY PEIGLFSLED HENGRIYVHR
PVDREMTPSF TVYFDVVERS TGKIVDTSLI FNIRISDVND HAPQFPEKEF NITVQENQSA
GQPIFQMLAV DLDEENTPNS QVLYFLISQT PLLKESGFRV DRLSGEIRLS GCLDYETAPQ
FTLLIRARDC GEPSLSSTTT VHVDVQEGNN HRPAFTQENY KVQIPEGRAS QGVLRLLVQD
RDSPFTSAWR AKFNILHGNE EGHFDISTDP ETNEGILNVI KPLDYETRPA QSLIIVVENE
ERLVFCERGK LQPPRKAAAS ATVSVQVTDA NDPPAFHPQS FIVNKEEGAR PGTLLGTFNA
MDPDSQIRYE LVHDPANWVS VDKNSGVVIT VEPIDRESPH VNNSFYVIII HAVDDGFPPQ
TATGTLMLFL SDINDNVPTL RPRSRYMEVC ESAVHEPLHI EAEDPDLEPF SDPFTFELDN
TWGNAEDTWK LGRNWGQSVE LLTLRSLPRG NYLVPLFIGD KQGLSQKQTV HVRICPCASG
LTCVELADAE VGLHVGALFP VCAAFVALAV ALLFLLRCYF VLEPKRHGCS VSNDEGHQTL
VMYNAESKGT SAQTWSDVEG QRPALLICTA AAGPTQGVKD LEEVPPSAAS QSAQARCALG
SWGYGKPFEP RSVKNIHSTP AYPDATMHRQ LLAPVEGRMA ETLNQKLHVA NVLEDDPGYL
PHVYSEEGEC GGAPSLSSLA SLEQELQPDL LDSLGSKATP FEEIYSESGV PS*

Position of stopcodon in wt / mu CDS

2499 / 2499

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

833 / 833

Position of stopcodon in wt / mu cDNA

2803 / 2803

Position of start ATG in wt / mu cDNA

305 / 305

Last intron/exon boundary

2599

Theoretical NMD boundary in CDS

2244

Length of CDS

2499

Coding sequence (CDS) position

133

cDNA position

437

gDNA position

11666

Chromosomal position

59970088

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

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