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: ENST00000280155
MT speed 0.08 s - this script 2.530852 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
ENST00000280155(MANE Select)	ADRA2A	Benign	24\|76	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

10:111079231C>T_1_ENST00000280155

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 24|76 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:111079231C>T (GRCh38)

Gene symbol

ADRA2A

Gene constraints

LOEUF: 1.78, LOF (oe): 1.01, misssense (oe): 1.08, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000280155.4

Genbank transcript ID

NM_000681 (exact from MANE)

UniProt / AlphaMissense peptide

ADA2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1235C>T
g.2203C>T

AA changes

AAE:	T412M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs148162881
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1441	1441

Protein conservation

Species	Match	AA	Alignment
Human		412	C	W	F	P	F	F	F	T	Y	T	L	T	A	V	G	C	S	V	P	R	T	L	F	K
mutated	not conserved	412	C	W	F	P	F	F	F	T	Y	T	L	M	A	V	G	C	S	V	P	R
Ptroglodytes	all identical	412	C	W	F	P	F	F	F	T	Y	T	L	T	A	V	G	C	S	V	P	R
Mmulatta	all identical	412	C	W	F	P	F	F	F	T	Y	T	L	T	A	V	G	C	S	V	P	R
Fcatus	no homologue
Mmusculus	not conserved	412	C	W	F	P	F	F	F	T	Y	T	L	I	A	V	G	C	P	V	P	S
Ggallus	all identical	389									Y	T	L	T	A	VCK	S	C	S	V	P	P	T	L	F
Trubripes	not conserved	362	C	W	F	P	F	F	F	T	Y	M	L	M	T	LCE	S	C	P	V	P	D	T	L	F
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	391	C	W	F	P	F	F	F	T	Y	T	L	M	AV

Protein features

Start (aa)	End (aa)	Feature	Details
1	465	CHAIN		lost
411	424	TOPO_DOM	Extracellular	lost
412	414	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.079	0.983
	0.243	0.014
(flanking)	-0.909	0.001

?

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

10

Strand

1

Original gDNA sequence snippet

CTTCTTCACCTACACGCTCACGGCCGTCGGGTGCTCCGTGC

Altered gDNA sequence snippet

CTTCTTCACCTACACGCTCATGGCCGTCGGGTGCTCCGTGC

Original cDNA sequence snippet

CTTCTTCACCTACACGCTCACGGCCGTCGGGTGCTCCGTGC

Altered cDNA sequence snippet

CTTCTTCACCTACACGCTCATGGCCGTCGGGTGCTCCGTGC

Wildtype AA sequence

MFRQEQPLAE GSFAPMGSLQ PDAGNASWNG TEAPGGGARA TPYSLQVTLT LVCLAGLLML
LTVFGNVLVI IAVFTSRALK APQNLFLVSL ASADILVATL VIPFSLANEV MGYWYFGKAW
CEIYLALDVL FCTSSIVHLC AISLDRYWSI TQAIEYNLKR TPRRIKAIII TVWVISAVIS
FPPLISIEKK GGGGGPQPAE PRCEINDQKW YVISSCIGSF FAPCLIMILV YVRIYQIAKR
RTRVPPSRRG PDAVAAPPGG TERRPNGLGP ERSAGPGGAE AEPLPTQLNG APGEPAPAGP
RDTDALDLEE SSSSDHAERP PGPRRPERGP RGKGKARASQ VKPGDSLPRR GPGATGIGTP
AAGPGEERVG AAKASRWRGR QNREKRFTFV LAVVIGVFVV CWFPFFFTYT LTAVGCSVPR
TLFKFFFWFG YCNSSLNPVI YTIFNHDFRR AFKKILCRGD RKRIV*

Mutated AA sequence

MFRQEQPLAE GSFAPMGSLQ PDAGNASWNG TEAPGGGARA TPYSLQVTLT LVCLAGLLML
LTVFGNVLVI IAVFTSRALK APQNLFLVSL ASADILVATL VIPFSLANEV MGYWYFGKAW
CEIYLALDVL FCTSSIVHLC AISLDRYWSI TQAIEYNLKR TPRRIKAIII TVWVISAVIS
FPPLISIEKK GGGGGPQPAE PRCEINDQKW YVISSCIGSF FAPCLIMILV YVRIYQIAKR
RTRVPPSRRG PDAVAAPPGG TERRPNGLGP ERSAGPGGAE AEPLPTQLNG APGEPAPAGP
RDTDALDLEE SSSSDHAERP PGPRRPERGP RGKGKARASQ VKPGDSLPRR GPGATGIGTP
AAGPGEERVG AAKASRWRGR QNREKRFTFV LAVVIGVFVV CWFPFFFTYT LMAVGCSVPR
TLFKFFFWFG YCNSSLNPVI YTIFNHDFRR AFKKILCRGD RKRIV*

Position of stopcodon in wt / mu CDS

1398 / 1398

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

466 / 466

Position of stopcodon in wt / mu cDNA

2366 / 2366

Position of start ATG in wt / mu cDNA

969 / 969

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

1398

Coding sequence (CDS) position

1235

cDNA position

2203

gDNA position

2203

Chromosomal position

111079231

Speed

0.08 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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