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: ENST00000565422
MT speed 0.37 s - this script 2.834697 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
ENST00000565422(MANE Select)	ANKRD66	Benign	38\|62	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:46758787C>A_1_ENST00000565422

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 38|62 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:46758787C>A (GRCh38)

Gene symbol

ANKRD66

Gene constraints

LOEUF: 1.58, LOF (oe): 0.96, misssense (oe): 1.03, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000565422.3

Genbank transcript ID

NM_001162435 (exact from MANE)

UniProt / AlphaMissense peptide

ANR66_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.457C>A
g.11855C>A

AA changes

AAE:	R153S	?
Score:	110

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200761978
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		153	A	A	Q	Q	K	G	L	P	L	D	E	R	D	E	D	W	D	A	K	K	R	E	L	E
mutated	not conserved	153	A	A	Q	Q	K	G	L	P	L	D	E	S	D	E	D	W	D	A	K	K	R	E	L
Ptroglodytes	all identical	208	A	A	Q	Q	K	G	L	P	L	D	E	R	D	E	D	W	D	A	K	K	R	E	L
Mmulatta	all identical	207	A	A	Q	Q	K	G	L	P	L	D	E	R	D	E	D	W	D	A	K	K	R	E	L
Fcatus	all identical	153	T	A	R	Q	K	G	L	P	L	D	Q	R	D	E	D	W	D	A	K	K	R	E	L
Mmusculus	all identical	153	-	-	-	Q	R	G	L	L	L	D	E	R	D	P	D	W	D	L	K	R	R	E	L
Ggallus	not conserved	211	T	A	A	M	R	G	M	P	L	D	Q	V	D	E	D	W	E	L	K	K	E	E	L
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	234	T	A	E	A	E	G	N	P	L	D	E	L	D	E	E	W	E	A	K	K	R	E	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	196	CHAIN		lost
152	196	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.301	0.07
	0.068	0.001
(flanking)	0.025	0

?

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

AGGGGCTGCCTCTGGATGAGCGTGATGAAGACTGGGATGCC

Altered gDNA sequence snippet

AGGGGCTGCCTCTGGATGAGAGTGATGAAGACTGGGATGCC

Original cDNA sequence snippet

AGGGGCTGCCTCTGGATGAGCGTGATGAAGACTGGGATGCC

Altered cDNA sequence snippet

AGGGGCTGCCTCTGGATGAGAGTGATGAAGACTGGGATGCC

Wildtype AA sequence

MELAKMSDMT KLHQAVAAGD YSLVKKILKK GLCDPNYKDV DWNDRTPLHW AAIKGQMEVI
RLLIEYGARP CLVTSVGWTP AHFAAEAGHL NILKTLHALH AAIDAPDFFG DTPKRIAQIY
GQKACVAFLE KAEPECQDHR CAAQQKGLPL DERDEDWDAK KRELELSLPS LNQNMNKKNK
KSRGPTRPSN TKGRRV*

Mutated AA sequence

MELAKMSDMT KLHQAVAAGD YSLVKKILKK GLCDPNYKDV DWNDRTPLHW AAIKGQMEVI
RLLIEYGARP CLVTSVGWTP AHFAAEAGHL NILKTLHALH AAIDAPDFFG DTPKRIAQIY
GQKACVAFLE KAEPECQDHR CAAQQKGLPL DESDEDWDAK KRELELSLPS LNQNMNKKNK
KSRGPTRPSN TKGRRV*

Position of stopcodon in wt / mu CDS

591 / 591

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

197 / 197

Position of stopcodon in wt / mu cDNA

745 / 745

Position of start ATG in wt / mu cDNA

155 / 155

Last intron/exon boundary

546

Theoretical NMD boundary in CDS

341

Length of CDS

591

Coding sequence (CDS) position

457

cDNA position

611

gDNA position

11855

Chromosomal position

46758787

Speed

0.37 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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