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: ENST00000256460
Querying Taster for transcript #2: ENST00000302036
Querying Taster for transcript #3: ENST00000707074
Querying Taster for transcript #4: ENST00000383826
Querying Taster for transcript #5: ENST00000302008
Querying Taster for transcript #6: ENST00000449570
Querying Taster for transcript #7: ENST00000352937
MT speed 0.47 s - this script 2.882021 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
ENST00000256460(MANE Select)	CAMK1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000302036	OGG1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000707074	OGG1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000302008	OGG1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000449570	OGG1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000383826	OGG1	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000352937	OGG1	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

3:9757429A>G_1_ENST00000256460

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

CAMK1

Gene constraints

LOEUF: 0.97, LOF (oe): 0.75, misssense (oe): 0.92, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000256460.8

Genbank transcript ID

NM_003656 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1371T>C
g.12564T>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

-1

Original gDNA sequence snippet

CCTGTCCCCTCCTCACCTGCTTCCCTACCACTCCTCACTGC

Altered gDNA sequence snippet

CCTGTCCCCTCCTCACCTGCCTCCCTACCACTCCTCACTGC

Original cDNA sequence snippet

CCTGTCCCCTCCTCACCTGCTTCCCTACCACTCCTCACTGC

Altered cDNA sequence snippet

CCTGTCCCCTCCTCACCTGCCTCCCTACCACTCCTCACTGC

Wildtype AA sequence

MLGAVEGPRW KQAEDIRDIY DFRDVLGTGA FSEVILAEDK RTQKLVAIKC IAKEALEGKE
GSMENEIAVL HKIKHPNIVA LDDIYESGGH LYLIMQLVSG GELFDRIVEK GFYTERDASR
LIFQVLDAVK YLHDLGIVHR DLKPENLLYY SLDEDSKIMI SDFGLSKMED PGSVLSTACG
TPGYVAPEVL AQKPYSKAVD CWSIGVIAYI LLCGYPPFYD ENDAKLFEQI LKAEYEFDSP
YWDDISDSAK DFIRHLMEKD PEKRFTCEQA LQHPWIAGDT ALDKNIHQSV SEQIKKNFAK
SKWKQAFNAT AVVRHMRKLQ LGTSQEGQGQ TASHGELLTP VAGGPAAGCC CRDCCVEPGT
ELSPTLPHQL *

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

149 / 149

Last intron/exon boundary

1178

Theoretical NMD boundary in CDS

979

Length of CDS

1113

Coding sequence (CDS) position

N/A

cDNA position

1371

gDNA position

12564

Chromosomal position

9757429

Speed

0.37 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:

3:9757429A>G_2_ENST00000302036

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

LOEUF: 1.03, LOF (oe): 0.77, misssense (oe): 1.05, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000302036.12

Genbank transcript ID

NM_016821 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.948+613A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP EVEAHLRKLG LGYRARYVSA SARAILEEQG GLAWLQQLRE SSYEEAHKAL
CILPGVGTKV ADCICLMALD KPQAVPVDVH MWHIAQRDYS WHPTTSQAKG PSPQTNKELG
NFFRSLWGPY AGWAQAGLLG NAFDGHQLLR PLIFCQDHLR EGPPIGRGDS QGEELEPQLP
SSLSSIPYGF CDHCWTKDVD DPPLVTHPSP GSRDGHMTQA WPVKVVSPLA TVIGHVMQAS
LLAL*

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

336 / 336

Last intron/exon boundary

1283

Theoretical NMD boundary in CDS

897

Length of CDS

1275

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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:

3:9757429A>G_3_ENST00000707074

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

no data

Ensembl transcript ID

ENST00000707074.1

Genbank transcript ID

NM_001354650 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.797+613A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP EVEAHLRKLG LGYRARYVSA SARAILEEQG GLAWLQQLRE SSYEEAHKAL
CILPGVGTKE TFSGACGDLM LAGPKRASLA MHLMATSFCV LLSSARITSE KAPLSGEGIH
KVKNWNPSFP PASPPFPMGS VTTAGPRTWM TLP*

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

156 / 156

Last intron/exon boundary

952

Theoretical NMD boundary in CDS

746

Length of CDS

1002

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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:

3:9757429A>G_5_ENST00000302008

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

LOEUF: 1.05, LOF (oe): 0.80, misssense (oe): 1.05, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000302008.12

Genbank transcript ID

NM_016828 (by similarity), NM_001354651 (by similarity), NM_001354652 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.948+613A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP EVEAHLRKLG LGYRARYVSA SARAILEEQG GLAWLQQLRE SSYEEAHKAL
CILPGVGTKV ADCICLMALD KPQAVPVDVH MWHIAQRDYS WHPTTSQAKG PSPQTNKELG
NFFRSLWGPY AGWAQALCQV ITTFMTFLGP HRLDQMPPEE LQTSSSRLGG PPWQCI*

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

215 / 215

Last intron/exon boundary

1262

Theoretical NMD boundary in CDS

997

Length of CDS

1071

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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:

3:9757429A>G_6_ENST00000449570

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

LOEUF: 1.06, LOF (oe): 0.81, misssense (oe): 1.06, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000449570.6

Genbank transcript ID

NM_016829 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.948+613A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP EVEAHLRKLG LGYRARYVSA SARAILEEQG GLAWLQQLRE SSYEEAHKAL
CILPGVGTKV ADCICLMALD KPQAVPVDVH MWHIAQRDYS WHPTTSQAKG PSPQTNKELG
NFFRSLWGPY AGWAQAAGSD AS*

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

216 / 216

Last intron/exon boundary

1216

Theoretical NMD boundary in CDS

950

Length of CDS

969

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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:

3:9757429A>G_4_ENST00000383826

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

LOEUF: 1.20, LOF (oe): 0.83, misssense (oe): 1.11, synonymous (oe): 1.10 ? (gnomAD)

Ensembl transcript ID

ENST00000383826.9

Genbank transcript ID

NM_016827 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.565+5480A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP PWQCI*

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

201 / 201

Last intron/exon boundary

765

Theoretical NMD boundary in CDS

514

Length of CDS

588

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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:

3:9757429A>G_7_ENST00000352937

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr3:9757429A>G (GRCh38)

Gene symbol

OGG1

Gene constraints

LOEUF: 1.27, LOF (oe): 0.86, misssense (oe): 1.06, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000352937.6

Genbank transcript ID

NM_016826 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.747+2544A>G
g.7486A>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	rs293795
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	28121	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.023	0.001
	0.183	0.004
(flanking)	0.544	0.022

?

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

3

Strand

1

Original gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAAGCAGGTGAGGAGGGGACAGG

Altered gDNA sequence snippet

GCAGTGAGGAGTGGTAGGGAGGCAGGTGAGGAGGGGACAGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPARALLPRR MGHRTLASTP ALWASIPCPR SELRLDLVLP SGQSFRWREQ SPAHWSGVLA
DQVWTLTQTE EQLHCTVYRG DKSQASRPTP DELEAVRKYF QLDVTLAQLY HHWGSVDSHF
QEVAQKFQGV RLLRQDPIEC LFSFICSSNN NIARITGMVE RLCQAFGPRL IQLDDVTYHG
FPSLQALAGP EVEAHLRKLG LGYRARYVSA SARAILEEQG GLAWLQQLRE SSYEEAHKAL
CILPGVGTKG LLGNAFDGHQ LLRPLIFCQD HLREGPPIGR GDSQGEELEP QLPSSLSSIP
YGFCDHCWTK DVDDPPLVTH PSPGSRDGHM TQAWPVKVVS PLATVIGHVM QASLLAL*

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

249 / 249

Last intron/exon boundary

995

Theoretical NMD boundary in CDS

696

Length of CDS

1074

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

7486

Chromosomal position

9757429

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