MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000264717
MT speed 0.08 s - this script 2.484758 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
ENST00000264717(MANE Select)	GCKR	Benign	27\|73	simple_aae		Yes				Single base exchange		Normal	Amino acid sequence changed Splice site changes

MutationT@ster 2025

Variant:

2:27508073T>A_1_ENST00000264717

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Splice site changes

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

Analysed issue

Analysis result

Variant

Chr2:27508073T>A (GRCh38)

Gene symbol

GCKR

Gene constraints

LOEUF: 1.14, LOF (oe): 0.89, misssense (oe): 0.98, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000264717.7

Genbank transcript ID

NM_001486 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1337T>A
g.11235T>A

AA changes

AAE:	L446Q	?
Score:	113

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		446	A	L	A	H	S	T	V	G	Q	T	L	L	I	P	L	K	K	L	F	P	S	I	I	S
mutated	not conserved	446	A	L	A	H	S	T	V	G	Q	T	L	Q	I	P	L	K	K	L	F	P	S	I	I
Ptroglodytes	not conserved	446	A	L	A	H	S	T	V	G	Q	T	L	P	I	P	L	K	K	L	F	P	S	I	I
Mmulatta	not conserved	446	A	L	A	H	S	T	V	G	Q	N	L	P	I	P	L	K	K	L	F	P	S	I	I
Fcatus	no homologue
Mmusculus	not conserved	446	A	L	V	H	S	T	V	G	Q	S	L	P	A	P	L	K	K	L	F	P	S	L	I
Ggallus	no homologue
Trubripes	not conserved	433					R	G	G	G	D	N	A	A	T	DRQEV	I	D	N	L	C	S	S	A	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	444	C	I	S	H	A	T	A	G	Q	Y	L	P	N	S	L	K	K	T	I	P	S	I	I

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.237	1
	0.075	0.996
(flanking)	0.638	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	11236	wt: 7.54 / mu: 9.22	-	wt: GACCTTGCTG\|gtgagagtcc mu: GACCTTGCAG\|gtgagagtcc

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

2

Strand

1

Original gDNA sequence snippet

CACCGTGGGTCAGACCTTGCTGGTGAGAGTCCAGCCGTGAC

Altered gDNA sequence snippet

CACCGTGGGTCAGACCTTGCAGGTGAGAGTCCAGCCGTGAC

Original cDNA sequence snippet

CACCGTGGGTCAGACCTTGCTGATCCCTCTGAAGAAGCTCT

Altered cDNA sequence snippet

CACCGTGGGTCAGACCTTGCAGATCCCTCTGAAGAAGCTCT

Wildtype AA sequence

MPGTKRFQHV IETPEPGKWE LSGYEAAVPI TEKSNPLTQD LDKADAENIV RLLGQCDAEI
FQEEGQALST YQRLYSESIL TTMVQVAGKV QEVLKEPDGG LVVLSGGGTS GRMAFLMSVS
FNQLMKGLGQ KPLYTYLIAG GDRSVVASRE GTEDSALHGI EELKKVAAGK KRVIVIGISV
GLSAPFVAGQ MDCCMNNTAV FLPVLVGFNP VSMARNDPIE DWSSTFRQVA ERMQKMQEKQ
KAFVLNPAIG PEGLSGSSRM KGGSATKILL ETLLLAAHKT VDQGIAASQR CLLEILRTFE
RAHQVTYSQS PKIATLMKSV STSLEKKGHV YLVGWQTLGI IAIMDGVECI HTFGADFRDV
RGFLIGDHSD MFNQKAELTN QGPQFTFSQE DFLTSILPSL TEIDTVVFIF TLDDNLTEVQ
TIVEQVKEKT NHIQALAHST VGQTLLIPLK KLFPSIISIT WPLLFFEYEG NFIQKFQREL
STKWVLNTVS TGAHVLLGKI LQNHMLDLRI SNSKLFWRAL AMLQRFSGQS KARCIESLLR
AIHFPQPLSD DIRAAPISCH VQVAHEKEQV IPIALLSLLF RCSITEAQAH LAAAPSVCEA
VRSALAGPGQ KRTADPLEIL EPDVQ*

Mutated AA sequence

MPGTKRFQHV IETPEPGKWE LSGYEAAVPI TEKSNPLTQD LDKADAENIV RLLGQCDAEI
FQEEGQALST YQRLYSESIL TTMVQVAGKV QEVLKEPDGG LVVLSGGGTS GRMAFLMSVS
FNQLMKGLGQ KPLYTYLIAG GDRSVVASRE GTEDSALHGI EELKKVAAGK KRVIVIGISV
GLSAPFVAGQ MDCCMNNTAV FLPVLVGFNP VSMARNDPIE DWSSTFRQVA ERMQKMQEKQ
KAFVLNPAIG PEGLSGSSRM KGGSATKILL ETLLLAAHKT VDQGIAASQR CLLEILRTFE
RAHQVTYSQS PKIATLMKSV STSLEKKGHV YLVGWQTLGI IAIMDGVECI HTFGADFRDV
RGFLIGDHSD MFNQKAELTN QGPQFTFSQE DFLTSILPSL TEIDTVVFIF TLDDNLTEVQ
TIVEQVKEKT NHIQALAHST VGQTLQIPLK KLFPSIISIT WPLLFFEYEG NFIQKFQREL
STKWVLNTVS TGAHVLLGKI LQNHMLDLRI SNSKLFWRAL AMLQRFSGQS KARCIESLLR
AIHFPQPLSD DIRAAPISCH VQVAHEKEQV IPIALLSLLF RCSITEAQAH LAAAPSVCEA
VRSALAGPGQ KRTADPLEIL EPDVQ*

Position of stopcodon in wt / mu CDS

1878 / 1878

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

626 / 626

Position of stopcodon in wt / mu cDNA

1944 / 1944

Position of start ATG in wt / mu cDNA

67 / 67

Last intron/exon boundary

1773

Theoretical NMD boundary in CDS

1656

Length of CDS

1878

Coding sequence (CDS) position

1337

cDNA position

1403

gDNA position

11235

Chromosomal position

27508073

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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