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: ENST00000678771
Querying Taster for transcript #2: ENST00000677273
Querying Taster for transcript #3: ENST00000676829
Querying Taster for transcript #4: ENST00000297156
Querying Taster for transcript #5: ENST00000514518
MT speed 0.19 s - this script 2.556001 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
ENST00000297156(MANE Select)	CAMLG	Benign	11\|89	3utr	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000678771	CAMLG	Benign	13\|87	3utr	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000676829	CAMLG	Benign	15\|85	3utr	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000514518	CAMLG	Benign	18\|82	3utr	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000677273	CAMLG	Benign	19\|81	3utr	No	Single base exchange	N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

5:134751145T>G_4_ENST00000297156

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 11|89 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:134751145T>G (GRCh38)

Gene symbol

CAMLG

Gene constraints

LOEUF: 1.23, LOF (oe): 0.82, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000297156.4

Genbank transcript ID

NM_001745 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1159T>G
g.12651T>G

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	rs1044794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	17	2988	3005

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0.998
	1.14	1
(flanking)	0.927	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

polyA signal ok

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered gDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Original cDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered cDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Wildtype AA sequence

MESMAVATDG GERPGVPAGS GLSASQRRAE LRRRKLLMNS EQRINRIMGF HRPGSGAEEE
SQTKSKQQDS DKLNSLSVPS VSKRVVLGDS VSTGTTDQQG GVAEVKGTQL GDKLDSFIKP
PECSSDVNLE LRQRNRGDLT ADSVQRGSRH GLEQYLSRFE EAMKLRKQLI SEKPSQEDGN
TTEEFDSFRI FRLVGCALLA LGVRAFVCKY LSIFAPFLTL QLAYMGLYKY FPKSEKKIKT
TVLTAALLLS GIPAEVINRS MDTYSKMGEV FTDLCVYFFT FIFCHELLDY WGSEVP*

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

74 / 74

Last intron/exon boundary

772

Theoretical NMD boundary in CDS

648

Length of CDS

891

Coding sequence (CDS) position

N/A

cDNA position

1159

gDNA position

12651

Chromosomal position

134751145

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

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MutationT@ster 2025

Variant:

5:134751145T>G_1_ENST00000678771

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 13|87 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:134751145T>G (GRCh38)

Gene symbol

CAMLG

Gene constraints

LOEUF: 1.20, LOF (oe): 0.80, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000678771.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1209T>G
g.12651T>G

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	rs1044794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	17	2988	3005

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0.998
	1.14	1
(flanking)	0.927	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

polyA signal ok

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered gDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Original cDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered cDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Wildtype AA sequence

MESMAVATDG GERPGVPAGS GLSASQRRAE LRRRKLLMNS EQRINRIMGF HRPGSGAEES
QTKSKQQDSD KLNSLSVPSV SKRVVLGDSV STGTTDQQGG VAEVKGTQLG DKLDSFIKPP
ECSSDVNLEL RQRNRGDLTA DSVQRGSRHG LEQYLSRFEE AMKLRKQLIS EKPSQEDGNT
TEEFDSFRIF RLVGCALLAL GVRAFVCKYL SIFAPFLTLQ LAYMGLYKYF PKSEKKIKTT
VLTAALLLSG IPAEVINRSM DTYSKMGEVF TDLCVYFFTF IFCHELLDYW GSEVP*

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

127 / 127

Last intron/exon boundary

822

Theoretical NMD boundary in CDS

645

Length of CDS

888

Coding sequence (CDS) position

N/A

cDNA position

1209

gDNA position

12651

Chromosomal position

134751145

Speed

0.03 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

MutationT@ster 2025

Variant:

5:134751145T>G_3_ENST00000676829

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 15|85 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:134751145T>G (GRCh38)

Gene symbol

CAMLG

Gene constraints

LOEUF: 1.87, LOF (oe): 1.16, misssense (oe): 0.91, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000676829.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.665T>G
g.12651T>G

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	rs1044794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	17	2988	3005

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0.998
	1.14	1
(flanking)	0.927	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

polyA signal ok

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered gDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Original cDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered cDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Wildtype AA sequence

MESMAVATDG GERPGVPAGS GLSASQRRAE LRRRKLLMNS EQRINRIMGF HRPGSGAE*

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

107 / 107

Last intron/exon boundary

278

Theoretical NMD boundary in CDS

121

Length of CDS

177

Coding sequence (CDS) position

N/A

cDNA position

665

gDNA position

12651

Chromosomal position

134751145

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

Back to summary table

MutationT@ster 2025

Variant:

5:134751145T>G_5_ENST00000514518

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 18|82 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:134751145T>G (GRCh38)

Gene symbol

CAMLG

Gene constraints

LOEUF: 1.81, LOF (oe): 0.96, misssense (oe): 0.92, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000514518.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.663T>G
g.12651T>G

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	rs1044794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	17	2988	3005

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0.998
	1.14	1
(flanking)	0.927	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

polyA signal ok

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered gDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Original cDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered cDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Wildtype AA sequence

MESMAVATDG GERPGVPAGS GLSASQRRAE LRRRKLLMNS EQRINRIMGF HRPGSGAVHI
CSISYFTTCV HGIIQIFSQE *

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

39 / 39

Last intron/exon boundary

276

Theoretical NMD boundary in CDS

187

Length of CDS

243

Coding sequence (CDS) position

N/A

cDNA position

663

gDNA position

12651

Chromosomal position

134751145

Speed

0.03 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

MutationT@ster 2025

Variant:

5:134751145T>G_2_ENST00000677273

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: 3utr
Tree vote: 19|81 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:134751145T>G (GRCh38)

Gene symbol

CAMLG

Gene constraints

LOEUF: 1.26, LOF (oe): 0.80, misssense (oe): 0.90, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000677273.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1192T>G
g.12651T>G

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	rs1044794
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	17	2988	3005

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0.998
	1.14	1
(flanking)	0.927	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

polyA signal ok

AA sequence altered

N/A

Chromosome

5

Strand

1

Original gDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered gDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Original cDNA sequence snippet

AGTTTGTATTATTACTGATATGAAGAATAGAGTACCAATGT

Altered cDNA sequence snippet

AGTTTGTATTATTACTGATAGGAAGAATAGAGTACCAATGT

Wildtype AA sequence

MESMAVATDG GERPGVPAGS GLSASQRRAE LRRRKLLMNS EQRINRIMGF HRPGSGAEEE
SQTKSKQQDS DKLNSLSVPS VSKRVVLGDS VSTGTTDQQG GVAEVKGTQL GDKLDSFIKP
PECSSDVNLE LRQRNRGDLT ADSVQRGSRH GLEQYLSRFE EAMKLRKQLI SEKPSQEDGN
TTEEFDSFRI FRLVGCALLA LGVRAFVCKY LSIFAPFLTL QLAYMGLYKY FPK*

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

109 / 109

Last intron/exon boundary

807

Theoretical NMD boundary in CDS

648

Length of CDS

702

Coding sequence (CDS) position

N/A

cDNA position

1192

gDNA position

12651

Chromosomal position

134751145

Speed

0.06 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