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: ENST00000380390
Querying Taster for transcript #2: ENST00000300762
Querying Taster for transcript #3: ENST00000623849
MT speed 0.09 s - this script 2.487333 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
ENST00000380390(MANE Select)	MMP26	Benign	2\|198	without_aae	No	Single base exchange	N/A
ENST00000300762	MMP26	Benign	2\|198	without_aae	No	Single base exchange	N/A
ENST00000623849(MANE Select)	OR51G1	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:4923425G>C_1_ENST00000380390

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 2|198 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:4923425G>C (GRCh38)

Gene symbol

MMP26

Gene constraints

LOEUF: 1.40, LOF (oe): 1.06, misssense (oe): 1.05, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000380390.6

Genbank transcript ID

NM_021801 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-144-64643G>C
g.218642G>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	rs1184416409
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.487	0
	-0.468	0.001
(flanking)	4.142	0.451

?

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

11

Strand

1

Original gDNA sequence snippet

ATAAACTGAAACTTCTTAATGATGCGCTGGCGAATTTGCTT

Altered gDNA sequence snippet

ATAAACTGAAACTTCTTAATCATGCGCTGGCGAATTTGCTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQLVILRVTI FLPWCFAVPV PPAADHKGWD FVEGYFHQFF LTKKESPLLT QETQTQLLQQ
FHRNGTDLLD MQMHALLHQP HCGVPDGSDT SISPGRCKWN KHTLTYRIIN YPHDMKPSAV
KDSIYNAVSI WSNVTPLIFQ QVQNGDADIK VSFWQWAHED GWPFDGPGGI LGHAFLPNSG
NPGVVHFDKN EHWSASDTGY NLFLVATHEI GHSLGLQHSG NQSSIMYPTY WYHDPRTFQL
SADDIQRIQH LYGEKCSSDI P*

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

479 / 479

Last intron/exon boundary

1235

Theoretical NMD boundary in CDS

706

Length of CDS

786

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

218642

Chromosomal position

4923425

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:

11:4923425G>C_2_ENST00000300762

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 2|198 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:4923425G>C (GRCh38)

Gene symbol

MMP26

Gene constraints

LOEUF: 1.46, LOF (oe): 1.05, misssense (oe): 1.06, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000300762.2

Genbank transcript ID

NM_001384608 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-152-64845G>C
g.218642G>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	rs1184416409
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	4	4

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.487	0
	-0.468	0.001
(flanking)	4.142	0.451

?

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

11

Strand

1

Original gDNA sequence snippet

ATAAACTGAAACTTCTTAATGATGCGCTGGCGAATTTGCTT

Altered gDNA sequence snippet

ATAAACTGAAACTTCTTAATCATGCGCTGGCGAATTTGCTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MQMHALLHQP HCGVPDGSDT SISPGRCKWN KHTLTYRIIN YPHDMKPSAV KDSIYNAVSI
WSNVTPLIFQ QVQNGDADIK VSFWQWAHED GWPFDGPGGI LGHAFLPNSG NPGVVHFDKN
EHWSASDTGY NLFLVATHEI GHSLGLQHSG NQSSIMYPTY WYHDPRTFQL SADDIQRIQH
LYGEKCSSDI P*

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

344 / 344

Last intron/exon boundary

890

Theoretical NMD boundary in CDS

496

Length of CDS

576

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

218642

Chromosomal position

4923425

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:

11:4923425G>C_3_ENST00000623849

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:4923425G>C (GRCh38)

Gene symbol

OR51G1

Gene constraints

LOEUF: 1.94, LOF (oe): 1.63, misssense (oe): 1.09, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000623849.1

Genbank transcript ID

NM_001005237 (exact from MANE)

UniProt / AlphaMissense peptide

O51G1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.915C>G
g.915C>G

AA changes

AAE:	I305M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1184416409
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	4	4

Protein conservation

Species	Match	AA	Alignment
Human		305	Y	S	I	K	T	K	Q	I	R	Q	R	I	I	K	K	F	Q	F	I	K	S	L	R	C
mutated	all conserved	305								I	R	Q	R	M	I	K	K	F	Q	F	I	K	S	L	R
Ptroglodytes	all identical	305								I	R	Q	R	I	I	K	K	F	Q	F	I	K	P	L	R
Mmulatta	no homologue
Fcatus	all identical	305								I	R	I	R	I	A	K	K	L	E	I	V	K	S	L	K
Mmusculus	all identical	305								I	R	Q	R	I	I	K	K	F	E	F	I	K
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	321	CHAIN		lost
297	321	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.487	0
	-0.468	0.001
(flanking)	4.142	0.451

?

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

11

Strand

-1

Original gDNA sequence snippet

AAGCAAATTCGCCAGCGCATCATTAAGAAGTTTCAGTTTAT

Altered gDNA sequence snippet

AAGCAAATTCGCCAGCGCATGATTAAGAAGTTTCAGTTTAT

Original cDNA sequence snippet

AAGCAAATTCGCCAGCGCATCATTAAGAAGTTTCAGTTTAT

Altered cDNA sequence snippet

AAGCAAATTCGCCAGCGCATGATTAAGAAGTTTCAGTTTAT

Wildtype AA sequence

MTILLNSSLQ RATFFLTGFQ GLEGLHGWIS IPFCFIYLTV ILGNLTILHV ICTDATLHGP
MYYFLGMLAV TDLGLCLSTL PTVLGIFWFD TREIGIPACF TQLFFIHTLS SMESSVLLSM
SIDRYVAVCN PLHDSTVLTP ACIVKMGLSS VLRSALLILP LPFLLKRFQY CHSHVLAHAY
CLHLEIMKLA CSSIIVNHIY GLFVVACTVG VDSLLIFLSY ALILRTVLSI ASHQERLRAL
NTCVSHICAV LLFYIPMIGL SLVHRFGEHL PRVVHLFMSY VYLLVPPLMN PIIYSIKTKQ
IRQRIIKKFQ FIKSLRCFWK D*

Mutated AA sequence

MTILLNSSLQ RATFFLTGFQ GLEGLHGWIS IPFCFIYLTV ILGNLTILHV ICTDATLHGP
MYYFLGMLAV TDLGLCLSTL PTVLGIFWFD TREIGIPACF TQLFFIHTLS SMESSVLLSM
SIDRYVAVCN PLHDSTVLTP ACIVKMGLSS VLRSALLILP LPFLLKRFQY CHSHVLAHAY
CLHLEIMKLA CSSIIVNHIY GLFVVACTVG VDSLLIFLSY ALILRTVLSI ASHQERLRAL
NTCVSHICAV LLFYIPMIGL SLVHRFGEHL PRVVHLFMSY VYLLVPPLMN PIIYSIKTKQ
IRQRMIKKFQ FIKSLRCFWK D*

Position of stopcodon in wt / mu CDS

966 / 966

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

322 / 322

Position of stopcodon in wt / mu cDNA

966 / 966

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

966

Coding sequence (CDS) position

915

cDNA position

915

gDNA position

915

Chromosomal position

4923425

Speed

0.05 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