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: ENST00000342783
Querying Taster for transcript #2: ENST00000375547
MT speed 0.04 s - this script 2.416172 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
ENST00000342783	PROZ	Benign	6\|194	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD
ENST00000375547(MANE Select)	PROZ	Benign	8\|192	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

13:113165199G>A_1_ENST00000342783

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 6|194 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr13:113165199G>A (GRCh38)

Gene symbol

PROZ

Gene constraints

LOEUF: 1.80, LOF (oe): 1.41, misssense (oe): 1.02, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000342783.5

Genbank transcript ID

NM_001256134 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.639+79G>A
g.6552G>A

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	rs3024735
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.058	0
	-1.305	0
(flanking)	0.637	0

?

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

13

Strand

1

Original gDNA sequence snippet

ATTTCCTAAATAGAAATGTTGACAACTAAGTGAATCAGGCA

Altered gDNA sequence snippet

ATTTCCTAAATAGAAATGTTAACAACTAAGTGAATCAGGCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAGCVPLLQG LVLVLALHRV EPSATSLKER HGLHSDSACT GVQESLFLPA SKANDVLVRW
KRAGSYLLEE LFEGNLEKEC YEEICVYEEA REVFENEVVT DEFWRRYKGG SPCISQPCLH
NGSCQDSIWG YTCTCSPGYE GSNCELAKNE CHPERTDGCQ HFCLPGQESY TCSCAQGYRL
GEDHKQCVPH DQCACGVLTS EKRAPDLQDL PWQVKLTNSE GKDFCGGVII RENFVLTTAK
CSLLHRNITV KTYFNRTSQD PLMIKITHVH VHMRYDADAG ENDLSLLELE WPIQCPGAGL
PVCTPEKDFA EHLLIPRTRG LLSGWARNGT DLGNSLTTRP VTLVEGEECG QVLNVTVTTR
TYCERSSVAA MHWMDGSVVT REHRGSWFLT GVLGSQPVGG QAHMVLVTKV SRYSLWFKQI
MN*

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

14 / 14

Last intron/exon boundary

770

Theoretical NMD boundary in CDS

706

Length of CDS

1269

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

6552

Chromosomal position

113165199

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:

13:113165199G>A_2_ENST00000375547

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 8|192 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr13:113165199G>A (GRCh38)

Gene symbol

PROZ

Gene constraints

LOEUF: 1.86, LOF (oe): 1.47, misssense (oe): 1.03, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000375547.7

Genbank transcript ID

NM_003891 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.573+79G>A
g.6552G>A

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	rs3024735
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.058	0
	-1.305	0
(flanking)	0.637	0

?

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

13

Strand

1

Original gDNA sequence snippet

ATTTCCTAAATAGAAATGTTGACAACTAAGTGAATCAGGCA

Altered gDNA sequence snippet

ATTTCCTAAATAGAAATGTTAACAACTAAGTGAATCAGGCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAGCVPLLQG LVLVLALHRV EPSVFLPASK ANDVLVRWKR AGSYLLEELF EGNLEKECYE
EICVYEEARE VFENEVVTDE FWRRYKGGSP CISQPCLHNG SCQDSIWGYT CTCSPGYEGS
NCELAKNECH PERTDGCQHF CLPGQESYTC SCAQGYRLGE DHKQCVPHDQ CACGVLTSEK
RAPDLQDLPW QVKLTNSEGK DFCGGVIIRE NFVLTTAKCS LLHRNITVKT YFNRTSQDPL
MIKITHVHVH MRYDADAGEN DLSLLELEWP IQCPGAGLPV CTPEKDFAEH LLIPRTRGLL
SGWARNGTDL GNSLTTRPVT LVEGEECGQV LNVTVTTRTY CERSSVAAMH WMDGSVVTRE
HRGSWFLTGV LGSQPVGGQA HMVLVTKVSR YSLWFKQIMN *

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

14 / 14

Last intron/exon boundary

704

Theoretical NMD boundary in CDS

640

Length of CDS

1203

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

6552

Chromosomal position

113165199

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