MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000581312
MT speed 0.07 s - this script 2.525491 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
ENST00000581312(MANE Select)	OTUD7B	Benign	38\|62	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:149944278C>T_1_ENST00000581312

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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

Chr1:149944278C>T (GRCh38)

Gene symbol

OTUD7B

Gene constraints

LOEUF: 0.53, LOF (oe): 0.37, misssense (oe): 0.85, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000581312.6

Genbank transcript ID

NM_020205 (exact from MANE)

UniProt / AlphaMissense peptide

OTU7B_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2111G>A
g.66449G>A

AA changes

AAE:	G704D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs782031992
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		704	P	G	D	F	T	I	P	R	P	S	G	G	G	V	H	C	Q	E	P	R	R	Q	L	A
mutated	not conserved	704	P	G	D	F	T	I	P	R	P	S	G	D	G	V	H	C	Q	E	P	R	R	Q	L
Ptroglodytes	all identical	704	P	G	D	F	T	I	P	R	P	S	G	G	G	V	H	C	Q	E	P	R	R	Q	L
Mmulatta	all identical	704	P	G	G	F	T	I	P	R	P	S	G	G	G	V	H	C	Q	E	P	R	R	Q	L
Fcatus	not conserved	703	P	G	G	F	T	V	P	R	S	T	G	A	G	V	H	C	Q	E	P	R	R	Q	L
Mmusculus	all identical	705	P	G	G	F	T	I	P	R	P	S	G	G	G	V	H	C	Q	E	P	R	R	Q	L
Ggallus	not conserved	694	S	G	V	F	T	F	P	R	PSVVSS	S	T	E	G	S	HPPG	Y	H
Trubripes	all identical	755										IEQITAVPPLNQHHHIHSY	M	G	G	Q	H	-	Q	L	P	-	-	-	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	712	S	G	G	F	T	I	P	R	PSVVN	S	S	D	N	T	HPHS	Y	Q	D	S	R	R	Q	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	843	CHAIN		lost
652	711	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.032	0.017
	0.001	0
(flanking)	0.538	0.011

?

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

1

Strand

-1

Original gDNA sequence snippet

TATCCCTCGGCCGTCTGGGGGCGGAGTCCACTGCCAGGAAC

Altered gDNA sequence snippet

TATCCCTCGGCCGTCTGGGGACGGAGTCCACTGCCAGGAAC

Original cDNA sequence snippet

TATCCCTCGGCCGTCTGGGGGCGGAGTCCACTGCCAGGAAC

Altered cDNA sequence snippet

TATCCCTCGGCCGTCTGGGGACGGAGTCCACTGCCAGGAAC

Wildtype AA sequence

MTLDMDAVLS DFVRSTGAEP GLARDLLEGK NWDVNAALSD FEQLRQVHAG NLPPSFSEGS
GGSRTPEKGF SDREPTRPPR PILQRQDDIV QEKRLSRGIS HASSSIVSLA RSHVSSNGGG
GGSNEHPLEM PICAFQLPDL TVYNEDFRSF IERDLIEQSM LVALEQAGRL NWWVSVDPTS
QRLLPLATTG DGNCLLHAAS LGMWGFHDRD LMLRKALYAL MEKGVEKEAL KRRWRWQQTQ
QNKESGLVYT EDEWQKEWNE LIKLASSEPR MHLGTNGANC GGVESSEEPV YESLEEFHVF
VLAHVLRRPI VVVADTMLRD SGGEAFAPIP FGGIYLPLEV PASQCHRSPL VLAYDQAHFS
ALVSMEQKEN TKEQAVIPLT DSEYKLLPLH FAVDPGKGWE WGKDDSDNVR LASVILSLEV
KLHLLHSYMN VKWIPLSSDA QAPLAQPESP TASAGDEPRS TPESGDSDKE SVGSSSTSNE
GGRRKEKSKR DREKDKKRAD SVANKLGSFG KTLGSKLKKN MGGLMHSKGS KPGGVGTGLG
GSSGTETLEK KKKNSLKSWK GGKEEAAGDG PVSEKPPAES VGNGGSKYSQ EVMQSLSILR
TAMQGEGKFI FVGTLKMGHR HQYQEEMIQR YLSDAEERFL AEQKQKEAER KIMNGGIGGG
PPPAKKPEPD AREEQPTGPP AESRAMAFST GYPGDFTIPR PSGGGVHCQE PRRQLAGGPC
VGGLPPYATF PRQCPPGRPY PHQDSIPSLE PGSHSKDGLH RGALLPPPYR VADSYSNGYR
EPPEPDGWAG GLRGLPPTQT KCKQPNCSFY GHPETNNFCS CCYREELRRR EREPDGELLV
HRF*

Mutated AA sequence

MTLDMDAVLS DFVRSTGAEP GLARDLLEGK NWDVNAALSD FEQLRQVHAG NLPPSFSEGS
GGSRTPEKGF SDREPTRPPR PILQRQDDIV QEKRLSRGIS HASSSIVSLA RSHVSSNGGG
GGSNEHPLEM PICAFQLPDL TVYNEDFRSF IERDLIEQSM LVALEQAGRL NWWVSVDPTS
QRLLPLATTG DGNCLLHAAS LGMWGFHDRD LMLRKALYAL MEKGVEKEAL KRRWRWQQTQ
QNKESGLVYT EDEWQKEWNE LIKLASSEPR MHLGTNGANC GGVESSEEPV YESLEEFHVF
VLAHVLRRPI VVVADTMLRD SGGEAFAPIP FGGIYLPLEV PASQCHRSPL VLAYDQAHFS
ALVSMEQKEN TKEQAVIPLT DSEYKLLPLH FAVDPGKGWE WGKDDSDNVR LASVILSLEV
KLHLLHSYMN VKWIPLSSDA QAPLAQPESP TASAGDEPRS TPESGDSDKE SVGSSSTSNE
GGRRKEKSKR DREKDKKRAD SVANKLGSFG KTLGSKLKKN MGGLMHSKGS KPGGVGTGLG
GSSGTETLEK KKKNSLKSWK GGKEEAAGDG PVSEKPPAES VGNGGSKYSQ EVMQSLSILR
TAMQGEGKFI FVGTLKMGHR HQYQEEMIQR YLSDAEERFL AEQKQKEAER KIMNGGIGGG
PPPAKKPEPD AREEQPTGPP AESRAMAFST GYPGDFTIPR PSGDGVHCQE PRRQLAGGPC
VGGLPPYATF PRQCPPGRPY PHQDSIPSLE PGSHSKDGLH RGALLPPPYR VADSYSNGYR
EPPEPDGWAG GLRGLPPTQT KCKQPNCSFY GHPETNNFCS CCYREELRRR EREPDGELLV
HRF*

Position of stopcodon in wt / mu CDS

2532 / 2532

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

844 / 844

Position of stopcodon in wt / mu cDNA

2877 / 2877

Position of start ATG in wt / mu cDNA

346 / 346

Last intron/exon boundary

1668

Theoretical NMD boundary in CDS

1272

Length of CDS

2532

Coding sequence (CDS) position

2111

cDNA position

2456

gDNA position

66449

Chromosomal position

149944278

Speed

0.07 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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