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: ENST00000377075
MT speed 0.14 s - this script 2.596533 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
ENST00000377075(MANE Select)	CNNM4	Deleterious	71\|29	simple_aae		No				Insertion		Insertion of more than 2 AA	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:96761085T>TGCTGTGGGC_1_ENST00000377075

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 71|29 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:96761085_96761086insGCTGTGGGC (GRCh38)

Gene symbol

CNNM4

Gene constraints

LOEUF: 0.79, LOF (oe): 0.59, misssense (oe): 0.75, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000377075.3

Genbank transcript ID

NM_020184 (exact from MANE)

UniProt / AlphaMissense peptide

CNNM4_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.86_87insGCTGTGGGC
g.184_185insGCTGTGGGC

AA changes

insertion of more than 2 AA

AAE:	-30L	-30W	-30A	?
Score:	-	-	-

Frameshift

No

Length of protein

Insertion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1191837197
gnomAD	homozygous (GCTGTGGGC/GCTGTGGGC)	heterozygous	allele carriers
	0	6	6

Protein conservation

Species	Match	AA	Alignment
Human		30	L	L	L	A	A	P	V	L	L	V	L	L	W	A	L	G	A	R	G	Q	G	S	P	Q
mutated	all identical	30	L	L	L	A	A	P	V	L	L	V	L	L	W	A	LWAL	G	A	R	G	Q	G	S	P
Ptroglodytes	all identical	30	L	L	L	A	A	P	V	L	L	V	L	L	W	A	L	G	A	R	G	Q	G	S	P
Mmulatta	all identical	30	L	L	L	A	A	P	V	L	L	V	L	L	W	A	R	G	A	R	G	Q	G	S	P
Fcatus	all identical	30	L	L	L	A	T	L	L	L	L	V	L	L	W	A	R	G	A	R	G	Q	S	D	P
Mmusculus	all identical	30	L	L	L	A	A	-	-	-	L	L	L	L	W	T	R	A	A	S	G	Q	S	S	P
Ggallus	all identical	28	A	A	S	P	P	P	L	LSP	L	L	L	L	L	A	L	P	G	G	T	A	V	G	G
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	178	TOPO_DOM	Extracellular	lost
1	775	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.341	0.566
(flanking)	4.357	0.93

?

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

2

Strand

1

Original gDNA sequence snippet

GCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCC

Altered gDNA sequence snippet

GCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGTGGGCGCTGGGGGCCC

Original cDNA sequence snippet

GCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCC

Altered cDNA sequence snippet

GCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGTGGGCGCTGGGGGCCC

Wildtype AA sequence

MAPVGGGGRP VGGPARGRLL LAAPVLLVLL WALGARGQGS PQQGTIVGMR LASCNKSCGT
NPDGIIFVSE GSTVNLRLYG YSLGNISSNL ISFTEVDDAE TLHKSTSCLE LTKDLVVQQL
VNVSRGNTSG VLVVLTKFLR RSESMKLYAL CTRAQPDGPW LKWTDKDSLL FMVEEPGRFL
PLWLHILLIT VLLVLSGIFS GLNLGLMALD PMELRIVQNC GTEKERRYAR KIEPIRRKGN
YLLCSLLLGN VLVNTSLTIL LDNLIGSGLM AVASSTIGIV IFGEILPQAL CSRHGLAVGA
NTILLTKFFM LLTFPLSFPI SKLLDFFLGQ EIRTVYNREK LMEMLKVTEP YNDLVKEELN
MIQGALELRT KTVEDIMTQL QDCFMIRSDA ILDFNTMSEI MESGYTRIPV FEDEQSNIVD
ILYVKDLAFV DPDDCTPLKT ITRFYNHPVH FVFHDTKLDA MLEEFKKGKS HLAIVQKVNN
EGEGDPFYEV LGLVTLEDVI EEIIKSEILD ESDMYTDNRS RKRVSEKNKR DFSAFKDADN
ELKVKISPQL LLAAHRFLAT EVSQFSPSLI SEKILLRLLK YPDVIQELKF DEHNKYYARH
YLYTRNKPAD YFILILQGKV EVEAGKENMK FETGAFSYYG TMALTSVPSD RSPAHPTPLS
RSASLSYPDR TDVSTAATLA GSSNQFGSSV LGQYISDFSV RALVDLQYIK ITRQQYQNGL
LASRMENSPQ FPIDGCTTHM ENLAEKSELP VVDETTTLLN ERNSLLHKAS HENAI*

Mutated AA sequence

MAPVGGGGRP VGGPARGRLL LAAPVLLVLL WALWALGARG QGSPQQGTIV GMRLASCNKS
CGTNPDGIIF VSEGSTVNLR LYGYSLGNIS SNLISFTEVD DAETLHKSTS CLELTKDLVV
QQLVNVSRGN TSGVLVVLTK FLRRSESMKL YALCTRAQPD GPWLKWTDKD SLLFMVEEPG
RFLPLWLHIL LITVLLVLSG IFSGLNLGLM ALDPMELRIV QNCGTEKERR YARKIEPIRR
KGNYLLCSLL LGNVLVNTSL TILLDNLIGS GLMAVASSTI GIVIFGEILP QALCSRHGLA
VGANTILLTK FFMLLTFPLS FPISKLLDFF LGQEIRTVYN REKLMEMLKV TEPYNDLVKE
ELNMIQGALE LRTKTVEDIM TQLQDCFMIR SDAILDFNTM SEIMESGYTR IPVFEDEQSN
IVDILYVKDL AFVDPDDCTP LKTITRFYNH PVHFVFHDTK LDAMLEEFKK GKSHLAIVQK
VNNEGEGDPF YEVLGLVTLE DVIEEIIKSE ILDESDMYTD NRSRKRVSEK NKRDFSAFKD
ADNELKVKIS PQLLLAAHRF LATEVSQFSP SLISEKILLR LLKYPDVIQE LKFDEHNKYY
ARHYLYTRNK PADYFILILQ GKVEVEAGKE NMKFETGAFS YYGTMALTSV PSDRSPAHPT
PLSRSASLSY PDRTDVSTAA TLAGSSNQFG SSVLGQYISD FSVRALVDLQ YIKITRQQYQ
NGLLASRMEN SPQFPIDGCT THMENLAEKS ELPVVDETTT LLNERNSLLH KASHENAI*

Position of stopcodon in wt / mu CDS

2328 / 2337

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

776 / 779

Position of stopcodon in wt / mu cDNA

2426 / 2435

Position of start ATG in wt / mu cDNA

99 / 99

Last intron/exon boundary

2228

Theoretical NMD boundary in CDS

2079

Length of CDS

2328

Coding sequence (CDS) position

86 / 87

cDNA position

184 / 185

gDNA position

184 / 185

Chromosomal position

96761085 / 96761086

Speed

0.14 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