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: ENST00000421631
Querying Taster for transcript #2: ENST00000239926
Querying Taster for transcript #3: ENST00000515645
MT speed 0.14 s - this script 2.498439 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000239926(MANE Select)	MYOT	Deleterious	60\|40	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000515645	MYOT	Deleterious	151\|49	without_aae	No	Single base exchange	N/A
ENST00000421631	MYOT	Deleterious	155\|45	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

5:137870800A>C_2_ENST00000239926

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 60|40 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:137870800A>C (GRCh38)

Gene symbol

MYOT

Gene constraints

LOEUF: 0.92, LOF (oe): 0.67, misssense (oe): 0.80, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000239926.9

Genbank transcript ID

NM_006790 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.149A>C
g.2943A>C

AA changes

AAE:	Q50P	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34717730
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		50	S	I	I	I	Q	P	R	Q	C	T	E	Q	R	F	S	A	S	S	T	L	S	S	H	I
mutated	not conserved	50	S	I	I	I	Q	P	R	Q	C	T	E	P	R	F	S	A	S	S	T	L	S	S
Ptroglodytes	all identical	50	S	I	I	I	Q	P	R	Q	C	T	E	Q	R	F	S	A	S	S	T	L	S	S
Mmulatta	no homologue
Fcatus	all identical	50	S	I	I	I	Q	P	R	Q	C	T	E	Q	R	F	S	A	S	S	T	V	S	S
Mmusculus	all identical	50	S	I	V	I	Q	P	R	Q	C	T	E	Q	R	F	S	A	S	S	T	V	S	S
Ggallus	no homologue
Trubripes	not conserved	152	S	F	T	L	T	P	I	SPYAASVP	C	A	P	L	S	F	S	V	S	S	G	L	G	S	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	66	S	I	S	I	Q	P	Q	P	C	S	S	Y	N	M	S	S	A	A	P	V	A	P

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.336	0.998
	6.345	1
(flanking)	1.988	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

5

Strand

1

Original gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAA

Altered gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCCAAGATTTTCTGCCTCCTCAA

Original cDNA sequence snippet

GCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAA

Altered cDNA sequence snippet

GCCCCGCCAGTGTACAGAGCCAAGATTTTCTGCCTCCTCAA

Wildtype AA sequence

MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ RFSASSTLSS
HITMSSSAFP ASPQQHAGSN PGQRVTTTYN QSPASFLSSI LPSQPDYNSS KIPSAMDSNY
QQSSAGQPIN AKPSQTANAK PIPRTPDHEI QGSKEALIQD LERKLKCKDT LLHNGNQRLT
YEEKMARRLL GPQNAAAVFQ AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ
DAIQEKFYPP RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV
SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM FIYKPQSKKV
LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ DNTGRVTLLI KDVNKKDAGW
YTVSAVNEAG VTTCNTRLDV TARPNQTLPA PKQLRVRPTF SKYLALNGKG LNVKQAFNPE
GEFQRLAAQS GLYESEEL*

Mutated AA sequence

MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEP RFSASSTLSS
HITMSSSAFP ASPQQHAGSN PGQRVTTTYN QSPASFLSSI LPSQPDYNSS KIPSAMDSNY
QQSSAGQPIN AKPSQTANAK PIPRTPDHEI QGSKEALIQD LERKLKCKDT LLHNGNQRLT
YEEKMARRLL GPQNAAAVFQ AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ
DAIQEKFYPP RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV
SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM FIYKPQSKKV
LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ DNTGRVTLLI KDVNKKDAGW
YTVSAVNEAG VTTCNTRLDV TARPNQTLPA PKQLRVRPTF SKYLALNGKG LNVKQAFNPE
GEFQRLAAQS GLYESEEL*

Position of stopcodon in wt / mu CDS

1497 / 1497

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

499 / 499

Position of stopcodon in wt / mu cDNA

1802 / 1802

Position of start ATG in wt / mu cDNA

306 / 306

Last intron/exon boundary

1629

Theoretical NMD boundary in CDS

1273

Length of CDS

1497

Coding sequence (CDS) position

149

cDNA position

454

gDNA position

2943

Chromosomal position

137870800

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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MutationT@ster 2025

Variant:

5:137870800A>C_3_ENST00000515645

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 151|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:137870800A>C (GRCh38)

Gene symbol

MYOT

Gene constraints

LOEUF: 1.05, LOF (oe): 0.74, misssense (oe): 0.83, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000515645.1

Genbank transcript ID

NM_001300911 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-120-77A>C
g.2943A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34717730
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.336	0.998
	6.345	1
(flanking)	1.988	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAA

Altered gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCCAAGATTTTCTGCCTCCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MDSNYQQSSA GQPINAKPSQ TANAKPIPRT PDHEIQGSKE ALIQDLERKL KCKDTLLHNG
NQRLTYEEKM ARRLLGPQNA AAVFQAQDDS GAQDSQQHNS EHARLQVPTS QVRSRSTSRG
DVNDQDAIQE KFYPPRFIQV PENMSIDEGR FCRMDFKVSG LPAPDVSWYL NGRTVQSDDL
HKMIVSEKGL HSLIFEVVRA SDAGAYACVA KNRAGEATFT VQLDVLAKEH KRAPMFIYKP
QSKKVLEGDS VKLECQISAI PPPKLFWKRN NEMVQFNTDR ISLYQDNTGR VTLLIKDVNK
KDAGWYTVSA VNEAGVTTCN TRLDVTARPN QTLPAPKQLR VRPTFSKYLA LNGKGLNVKQ
AFNPEGEFQR LAAQSGLYES EEL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

284 / 284

Last intron/exon boundary

1262

Theoretical NMD boundary in CDS

928

Length of CDS

1152

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

2943

Chromosomal position

137870800

Speed

0.02 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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MutationT@ster 2025

Variant:

5:137870800A>C_1_ENST00000421631

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 155|45 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:137870800A>C (GRCh38)

Gene symbol

MYOT

Gene constraints

LOEUF: 1.10, LOF (oe): 0.73, misssense (oe): 0.85, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000421631.6

Genbank transcript ID

NM_001135940 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-197+275A>C
g.2943A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34717730
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.336	0.998
	6.345	1
(flanking)	1.988	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAA

Altered gDNA sequence snippet

GCCCCGCCAGTGTACAGAGCCAAGATTTTCTGCCTCCTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MARRLLGPQN AAAVFQAQDD SGAQDSQQHN SEHARLQVPT SQVRSRSTSR GDVNDQDAIQ
EKFYPPRFIQ VPENMSIDEG RFCRMDFKVS GLPAPDVSWY LNGRTVQSDD LHKMIVSEKG
LHSLIFEVVR ASDAGAYACV AKNRAGEATF TVQLDVLAKE HKRAPMFIYK PQSKKVLEGD
SVKLECQISA IPPPKLFWKR NNEMVQFNTD RISLYQDNTG RVTLLIKDVN KKDAGWYTVS
AVNEAGVTTC NTRLDVTARP NQTLPAPKQL RVRPTFSKYL ALNGKGLNVK QAFNPEGEFQ
RLAAQSGLYE SEEL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

378 / 378

Last intron/exon boundary

1149

Theoretical NMD boundary in CDS

721

Length of CDS

945

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

2943

Chromosomal position

137870800

Speed

0.04 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