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: ENST00000288710
MT speed 0.35 s - this script 2.809832 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
ENST00000288710(MANE Select)	DRC1	Deleterious	79\|21	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:26402063C>G_1_ENST00000288710

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:26402063C>G (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.74C>G
g.144C>G

AA changes

AAE:	P25R	?
Score:	103

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs778586998
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	23	23

Protein conservation

Species	Match	AA	Alignment
Human		25	V	D	E	H	L	S	T	Q	I	L	A	P	S	V	H	S	D	N	S	Q	E	R	I	Q
mutated	not conserved	25	V	D	E	H	L	S	T	Q	I	L	A	R	S	V	H	S	D	N	S	Q	E	R	I
Ptroglodytes	all identical	25	V	D	E	H	L	S	T	Q	I	L	V	P	S	V	H	S	D	N	S	Q	E	R	I
Mmulatta	all identical	25	L	D	E	H	L	S	T	Q	I	L	A	P	S	V	H	S	D	N	P	Q	E	R	I
Fcatus	all identical	25	-	E	E	H	S	S	T	P	I	L	G	P	S	V	H	S	D	N	P	Q	E	R	I
Mmusculus	all identical	25	G	E	E	H	L	A	T	P	I	L	G	P	S	V	H	S	D	N	P	Q	E	R	I
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	not conserved	54	I	D	G	L	I	F	N	E	-	-	-	-	-	-	R	C	D	K	S	V	K	K	L
Celegans	no homologue
Xtropicalis	all identical	40	T	E	E	-	-	-	S	A	V	T	G	P	S	L	D	A	E	D	P	Q	E	R	I

Protein features

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

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.614	0.995
	3.614	1
(flanking)	0.904	1

?

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

GTCCACCCAGATTCTCGCGCCCTCGGTCCACTCCGACAACT

Altered gDNA sequence snippet

GTCCACCCAGATTCTCGCGCGCTCGGTCCACTCCGACAACT

Original cDNA sequence snippet

GTCCACCCAGATTCTCGCGCCCTCGGTCCACTCCGACAACT

Altered cDNA sequence snippet

GTCCACCCAGATTCTCGCGCGCTCGGTCCACTCCGACAACT

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

MNPPGSLEAL DPNVDEHLST QILARSVHSD 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

74

cDNA position

144

gDNA position

144

Chromosomal position

26402063

Speed

0.35 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