MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000288710
MT speed 0.14 s - this script 2.59717 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
ENST00000288710(MANE Select)	DRC1	Benign	27\|73	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

2:26402015C>T_1_ENST00000288710

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 27|73 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:26402015C>T (GRCh38)

Gene symbol

DRC1

Gene constraints

LOEUF: 0.87, LOF (oe): 0.72, misssense (oe): 0.94, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000288710.7

Genbank transcript ID

NM_145038 (exact from MANE)

UniProt / AlphaMissense peptide

DRC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.26C>T
g.96C>T

AA changes

AAE:	A9V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs146049908
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	564	564

Protein conservation

Species	Match	AA
Human		9	M	N	P	P	G	S	L	E	A	L	D	P	N	V	D	E	H	L	S	T	Q
mutated	not conserved	9	M	N	P	P	G	S	L	E	V	L	D	P	N	V	D	E	H	L	S	T	Q	I
Ptroglodytes	all identical	9	M	N	P	P	G	S	L	E	A	L	D	P	N	V	D	E	H	L	S	T	Q	I
Mmulatta	not conserved	9	M	N	P	P	G	S	L	A	G	L	D	P	N	L	D	E	H	L	S	T	Q	I
Fcatus	all identical	9	M	N	P	P	G	P	L	G	A	L	E	K	E	-	E	E	H	S	S	T	P	I
Mmusculus	not conserved	9	M	N	P	S	G	T	I	G	V	L	E	Q	N	G	E	E	H	L	A	T	P	I
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	all conserved	38	L	G	P	V	D	S	W	E	S	F	N	D	R	I	D	G	L	I	F	N	E	-
Celegans	no homologue
Xtropicalis	not conserved	24						S	L	Y	E	K	E	P	G	T	E	E	-	-	-	S	A	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	740	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.421	0.002
	0.485	0.002
(flanking)	0.013	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

2

Strand

1

Original gDNA sequence snippet

TCCGCCGGGGTCCCTAGAGGCCCTGGACCCGAACGTGGACG

Altered gDNA sequence snippet

TCCGCCGGGGTCCCTAGAGGTCCTGGACCCGAACGTGGACG

Original cDNA sequence snippet

TCCGCCGGGGTCCCTAGAGGCCCTGGACCCGAACGTGGACG

Altered cDNA sequence snippet

TCCGCCGGGGTCCCTAGAGGTCCTGGACCCGAACGTGGACG

Wildtype AA sequence

MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD
GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI
EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ
ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN
KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ
QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK
QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD
RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY
LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE
DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE
SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE
YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN
SKINSELQVP PTQVLRVPTK *

Mutated AA sequence

MNPPGSLEVL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD
GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI
EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ
ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN
KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ
QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK
QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD
RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY
LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE
DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE
SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE
YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN
SKINSELQVP PTQVLRVPTK *

Position of stopcodon in wt / mu CDS

2223 / 2223

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

741 / 741

Position of stopcodon in wt / mu cDNA

2293 / 2293

Position of start ATG in wt / mu cDNA

71 / 71

Last intron/exon boundary

2236

Theoretical NMD boundary in CDS

2115

Length of CDS

2223

Coding sequence (CDS) position

26

cDNA position

96

gDNA position

96

Chromosomal position

26402015

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

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