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: ENST00000651386
Querying Taster for transcript #2: ENST00000331327
MT speed 0.23 s - this script 2.671965 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
ENST00000331327(MANE Select)	PURA	Deleterious	68\|32	simple_aae		No				Insertion		Insertion of 1 or 2 AA	Amino acid sequence changed Protein features (might be) affected
ENST00000651386	PURA	Deleterious	92\|8	simple_aae		No				Insertion		Insertion of 1 or 2 AA	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

5:140114302G>GGCGGCA_2_ENST00000331327

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 68|32 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140114302_140114303insGCGGCA (GRCh38)

Gene symbol

PURA

Gene constraints

LOEUF: 0.14, LOF (oe): 0.00, misssense (oe): 0.39, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000331327.5

Genbank transcript ID

NM_005859 (exact from MANE)

UniProt / AlphaMissense peptide

PURA_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.121_122insGCGGCA
g.6526_6527insGCGGCA

AA changes

insertion of 1 or 2 AA

AAE:	-42G	-42S	?
Score:	-	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1039658835
gnomAD	homozygous (GCGGCA/GCGGCA)	heterozygous	allele carriers
	0	249	249

Protein conservation

Species	Match	AA	Alignment
Human		42	G	G	G	G	G	G	G	G	G	G	G	G	S	G	G	G	G	G	G	A	P	G	G	L
mutated	all identical	42	G	G	G	G	G	G	G	G	G	G	G	G	S	GSG	G	G	G	G	G	A	P	G	G
Ptroglodytes	no homologue
Mmulatta	all identical	119	G	G	G	G	G	G	G	G	G	G	G	G	S	G	G	G	G	G	G	A	P	G	G
Fcatus	no homologue
Mmusculus	all identical	42	G	G	G	G	G	G	G	G	G	G	G	G	S	G	G	G	G	G	-	A	P	G	G
Ggallus	all identical	42	G	G	G	G	A	A	G	A	G	G	P	G	S	G	G	G	G	G	G	P	G	G	G
Trubripes	not conserved	319	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	G	G	A	G	S	A	S	G
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	42	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	S	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	55	REGION		lost
2	322	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.221	1
(flanking)	5.663	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

TGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGC

Altered gDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGCGGCAGTGGCGGCGGCGGC

Original cDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGC

Altered cDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGCGGCAGTGGCGGCGGCGGC

Wildtype AA sequence

MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGGGGGGA PGGLQHETQE
LASKRVDIQN KRFYLDVKQN AKGRFLKIAE VGAGGNKSRL TLSMSVAVEF RDYLGDFIEH
YAQLGPSQPP DLAQAQDEPR RALKSEFLVR ENRKYYMDLK ENQRGRFLRI RQTVNRGPGL
GSTQGQTIAL PAQGLIEFRD ALAKLIDDYG VEEEPAELPE GTSLTVDNKR FFFDVGSNKY
GVFMRVSEVK PTYRNSITVP YKVWAKFGHT FCKYSEEMKK IQEKQREKRA ACEQLHQQQQ
QQQEETAAAT LLLQGEEEGE ED*

Mutated AA sequence

MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGSGGGGG GAPGGLQHET
QELASKRVDI QNKRFYLDVK QNAKGRFLKI AEVGAGGNKS RLTLSMSVAV EFRDYLGDFI
EHYAQLGPSQ PPDLAQAQDE PRRALKSEFL VRENRKYYMD LKENQRGRFL RIRQTVNRGP
GLGSTQGQTI ALPAQGLIEF RDALAKLIDD YGVEEEPAEL PEGTSLTVDN KRFFFDVGSN
KYGVFMRVSE VKPTYRNSIT VPYKVWAKFG HTFCKYSEEM KKIQEKQREK RAACEQLHQQ
QQQQQEETAA ATLLLQGEEE GEED*

Position of stopcodon in wt / mu CDS

969 / 975

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

323 / 325

Position of stopcodon in wt / mu cDNA

1042 / 1048

Position of start ATG in wt / mu cDNA

74 / 74

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

969

Coding sequence (CDS) position

121 / 122

cDNA position

194 / 195

gDNA position

6526 / 6527

Chromosomal position

140114302 / 140114303

Speed

0.10 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:

5:140114302G>GGCGGCA_1_ENST00000651386

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140114302_140114303insGCGGCA (GRCh38)

Gene symbol

PURA

Gene constraints

LOEUF: 0.14, LOF (oe): 0.00, misssense (oe): 0.39, synonymous (oe): 1.26 ? (gnomAD)

Ensembl transcript ID

ENST00000651386.1

Genbank transcript ID

UniProt / AlphaMissense peptide

PURA_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.121_122insGCGGCA
g.6526_6527insGCGGCA

AA changes

insertion of 1 or 2 AA

AAE:	-42G	-42S	?
Score:	-	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1039658835
gnomAD	homozygous (GCGGCA/GCGGCA)	heterozygous	allele carriers
	0	249	249

Protein conservation

Species	Match	AA	Alignment
Human		42	G	G	G	G	G	G	G	G	G	G	G	G	S	G	G	G	G	G	G	A	P	G	G	L
mutated	all identical	42	G	G	G	G	G	G	G	G	G	G	G	G	S	GSG	G	G	G	G	G	A	P	G	G
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
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	55	REGION		lost
2	322	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.221	1
(flanking)	5.663	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

TGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGC

Altered gDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGCGGCAGTGGCGGCGGCGGC

Original cDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGC

Altered cDNA sequence snippet

TGGTGGCGGCGGGGGCGGCGGCGGCAGCGGCAGTGGCGGCGGCGGC

Wildtype AA sequence

MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGGGGGGA PGGLQHETQE
LASKRVDIQN KRFYLDVKQN AKGRFLKIAE VGAGGNKSRL TLSMSVAVEF RDYLGDFIEH
YAQLGPSQPP DLAQAQDEPR RALKSEFLVR ENRKYYMDLK ENQRGRFLRI RQTVNRGPGL
GSTQGQTIAL PAQGLIEFRD ALAKLIDDYG VEEEPAELPE GTSLTVDNKR FFFDVGSNKY
GVFMRVSEVK PTYRNSITVP YKVWAKFGHT FCKYSEEMKK IQEKQREKRA ACEQLHQQQQ
QQQEETAAAT LLLQGEEEGE ED*

Mutated AA sequence

MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGSGGGGG GAPGGLQHET
QELASKRVDI QNKRFYLDVK QNAKGRFLKI AEVGAGGNKS RLTLSMSVAV EFRDYLGDFI
EHYAQLGPSQ PPDLAQAQDE PRRALKSEFL VRENRKYYMD LKENQRGRFL RIRQTVNRGP
GLGSTQGQTI ALPAQGLIEF RDALAKLIDD YGVEEEPAEL PEGTSLTVDN KRFFFDVGSN
KYGVFMRVSE VKPTYRNSIT VPYKVWAKFG HTFCKYSEEM KKIQEKQREK RAACEQLHQQ
QQQQQEETAA ATLLLQGEEE GEED*

Position of stopcodon in wt / mu CDS

969 / 975

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

323 / 325

Position of stopcodon in wt / mu cDNA

1515 / 1521

Position of start ATG in wt / mu cDNA

547 / 547

Last intron/exon boundary

405

Theoretical NMD boundary in CDS

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

Length of CDS

969

Coding sequence (CDS) position

121 / 122

cDNA position

667 / 668

gDNA position

6526 / 6527

Chromosomal position

140114302 / 140114303

Speed

0.13 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