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: ENST00000601723
Querying Taster for transcript #2: ENST00000340093
Querying Taster for transcript #3: ENST00000221264
Querying Taster for transcript #4: ENST00000339082
MT speed 0.06 s - this script 2.455408 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
ENST00000339082	PLAUR	Benign	32\|168	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000601723	PLAUR	Benign	35\|165	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000221264	PLAUR	Benign	40\|160	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD
ENST00000340093(MANE Select)	PLAUR	Benign	43\|157	without_aae	No	Single base exchange	Normal	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

19:43652235G>A_4_ENST00000339082

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 32|168 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:43652235G>A (GRCh38)

Gene symbol

PLAUR

Gene constraints

LOEUF: 0.96, LOF (oe): 0.66, misssense (oe): 0.90, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000339082.7

Genbank transcript ID

NM_001005376 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.744C>T
g.18313C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4251912
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	817	818

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.112	0.417
	-5.896	0
(flanking)	0.929	0.797

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

-1

Original gDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGGTGAGGCCCT

Altered gDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGGTGAGGCCCT

Original cDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGAACGCTCACT

Altered cDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGAACGCTCACT

Wildtype AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEGRP KDDRHLRGCG YLPGCPGSNG
FHNNDTFHFL KCCNTTKCNE GPILELENLP QNGRQCYSCK GNSTHGCSSE ETFLIDCRGP
MNQCLVATGT HERSLWGSWL PCKSTTALRP PCCEEAQATH V*

Mutated AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEGRP KDDRHLRGCG YLPGCPGSNG
FHNNDTFHFL KCCNTTKCNE GPILELENLP QNGRQCYSCK GNSTHGCSSE ETFLIDCRGP
MNQCLVATGT HERSLWGSWL PCKSTTALRP PCCEEAQATH V*

Position of stopcodon in wt / mu CDS

846 / 846

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

282 / 282

Position of stopcodon in wt / mu cDNA

892 / 892

Position of start ATG in wt / mu cDNA

47 / 47

Last intron/exon boundary

800

Theoretical NMD boundary in CDS

703

Length of CDS

846

Coding sequence (CDS) position

744

cDNA position

790

gDNA position

18313

Chromosomal position

43652235

Speed

0.01 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:

19:43652235G>A_1_ENST00000601723

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 35|165 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:43652235G>A (GRCh38)

Gene symbol

PLAUR

Gene constraints

LOEUF: 0.84, LOF (oe): 0.54, misssense (oe): 0.88, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000601723.5

Genbank transcript ID

NM_001301037 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.608-3092C>T
g.18313C>T

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	rs4251912
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	817	818

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.112	0.417
	-5.896	0
(flanking)	0.929	0.797

?

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

19

Strand

-1

Original gDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGGTGAGGCCCT

Altered gDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGGTGAGGCCCT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEGRP KDDRHLRGCG YLPGCPGSNG
FHNNDTFHFL KCCNTTKCNE GPKPKNQSYM VRGCATASMC QHAHLGDAFS MNHIDVSCCT
KSGCNHPDLD VQYRSGAAPQ PGPAHLSLTI TLLMTARLWG GTLLWT*

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

34 / 34

Last intron/exon boundary

640

Theoretical NMD boundary in CDS

556

Length of CDS

861

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

18313

Chromosomal position

43652235

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:

19:43652235G>A_3_ENST00000221264

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 40|160 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:43652235G>A (GRCh38)

Gene symbol

PLAUR

Gene constraints

LOEUF: 0.91, LOF (oe): 0.60, misssense (oe): 0.90, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000221264.8

Genbank transcript ID

NM_001005377 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.609C>T
g.18313C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4251912
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	817	818

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.112	0.417
	-5.896	0
(flanking)	0.929	0.797

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

-1

Original gDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGGTGAGGCCCT

Altered gDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGGTGAGGCCCT

Original cDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGAACCGAAAAA

Altered cDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGAACCGAAAAA

Wildtype AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEVLE LENLPQNGRQ CYSCKGNSTH
GCSSEETFLI DCRGPMNQCL VATGTHEPKN QSYMVRGCAT ASMCQHAHLG DAFSMNHIDV
SCCTKSGCNH PDLDVQYRSG AAPQPGPAHL SLTITLLMTA RLWGGTLLWT *

Mutated AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEVLE LENLPQNGRQ CYSCKGNSTH
GCSSEETFLI DCRGPMNQCL VATGTHEPKN QSYMVRGCAT ASMCQHAHLG DAFSMNHIDV
SCCTKSGCNH PDLDVQYRSG AAPQPGPAHL SLTITLLMTA RLWGGTLLWT *

Position of stopcodon in wt / mu CDS

873 / 873

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

291 / 291

Position of stopcodon in wt / mu cDNA

1300 / 1300

Position of start ATG in wt / mu cDNA

428 / 428

Last intron/exon boundary

1046

Theoretical NMD boundary in CDS

568

Length of CDS

873

Coding sequence (CDS) position

609

cDNA position

1036

gDNA position

18313

Chromosomal position

43652235

Speed

0.01 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:

19:43652235G>A_2_ENST00000340093

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 43|157 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:43652235G>A (GRCh38)

Gene symbol

PLAUR

Gene constraints

LOEUF: 0.91, LOF (oe): 0.63, misssense (oe): 0.90, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000340093.8

Genbank transcript ID

NM_002659 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.744C>T
g.18313C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4251912
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	817	818

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.112	0.417
	-5.896	0
(flanking)	0.929	0.797

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

19

Strand

-1

Original gDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGGTGAGGCCCT

Altered gDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGGTGAGGCCCT

Original cDNA sequence snippet

AATCAATGTCTGGTAGCCACCGGCACTCACGAACCGAAAAA

Altered cDNA sequence snippet

AATCAATGTCTGGTAGCCACTGGCACTCACGAACCGAAAAA

Wildtype AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEGRP KDDRHLRGCG YLPGCPGSNG
FHNNDTFHFL KCCNTTKCNE GPILELENLP QNGRQCYSCK GNSTHGCSSE ETFLIDCRGP
MNQCLVATGT HEPKNQSYMV RGCATASMCQ HAHLGDAFSM NHIDVSCCTK SGCNHPDLDV
QYRSGAAPQP GPAHLSLTIT LLMTARLWGG TLLWT*

Mutated AA sequence

MGHPPLLPLL LLLHTCVPAS WGLRCMQCKT NGDCRVEECA LGQDLCRTTI VRLWEEGEEL
ELVEKSCTHS EKTNRTLSYR TGLKITSLTE VVCGLDLCNQ GNSGRAVTYS RSRYLECISC
GSSDMSCERG RHQSLQCRSP EEQCLDVVTH WIQEGEEGRP KDDRHLRGCG YLPGCPGSNG
FHNNDTFHFL KCCNTTKCNE GPILELENLP QNGRQCYSCK GNSTHGCSSE ETFLIDCRGP
MNQCLVATGT HEPKNQSYMV RGCATASMCQ HAHLGDAFSM NHIDVSCCTK SGCNHPDLDV
QYRSGAAPQP GPAHLSLTIT LLMTARLWGG TLLWT*

Position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

Position of stopcodon in wt / mu cDNA

1057 / 1057

Position of start ATG in wt / mu cDNA

50 / 50

Last intron/exon boundary

803

Theoretical NMD boundary in CDS

703

Length of CDS

1008

Coding sequence (CDS) position

744

cDNA position

793

gDNA position

18313

Chromosomal position

43652235

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