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: ENST00000627394
Querying Taster for transcript #2: ENST00000408984
Querying Taster for transcript #3: ENST00000402655
Querying Taster for transcript #4: ENST00000406884
Querying Taster for transcript #5: ENST00000539474
Querying Taster for transcript #6: ENST00000566780
MT speed 0.12 s - this script 2.521717 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000408984	WWOX	Benign	140\|60	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000627394	WWOX	Benign	142\|58	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000566780(MANE Select)	WWOX	Benign	146\|54	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000406884	WWOX	Benign	149\|51	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000539474	WWOX	Benign	157\|43	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000402655	WWOX	Benign	158\|42	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

16:78432581G>A_2_ENST00000408984

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 140|60 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.76, LOF (oe): 1.42, misssense (oe): 1.59, synonymous (oe): 1.66 ? (gnomAD)

Ensembl transcript ID

ENST00000408984.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.885G>A
g.333182G>A

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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered cDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMVSDCLVEG
GHF*

Mutated AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMVSDCLVEG
GHF*

Position of stopcodon in wt / mu CDS

1092 / 1092

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

364 / 364

Position of stopcodon in wt / mu cDNA

1177 / 1177

Position of start ATG in wt / mu cDNA

86 / 86

Last intron/exon boundary

1192

Theoretical NMD boundary in CDS

1056

Length of CDS

1092

Coding sequence (CDS) position

885

cDNA position

970

gDNA position

333182

Chromosomal position

78432581

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:

16:78432581G>A_1_ENST00000627394

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 142|58 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.78, LOF (oe): 1.44, misssense (oe): 1.59, synonymous (oe): 1.66 ? (gnomAD)

Ensembl transcript ID

ENST00000627394.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.885G>A
g.333182G>A

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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered cDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMNTVPVGHG
IRGREKEERT RHKLEGIHLQ CCSELFDSAW LLADCWLLAG GTPQLLEAST VPEYLGFSHK
AASFIKPATR VSGASWSTRW CLTCPM*

Mutated AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMNTVPVGHG
IRGREKEERT RHKLEGIHLQ CCSELFDSAW LLADCWLLAG GTPQLLEAST VPEYLGFSHK
AASFIKPATR VSGASWSTRW CLTCPM*

Position of stopcodon in wt / mu CDS

1341 / 1341

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

447 / 447

Position of stopcodon in wt / mu cDNA

1720 / 1720

Position of start ATG in wt / mu cDNA

380 / 380

Last intron/exon boundary

1531

Theoretical NMD boundary in CDS

1101

Length of CDS

1341

Coding sequence (CDS) position

885

cDNA position

1264

gDNA position

333182

Chromosomal position

78432581

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:

16:78432581G>A_6_ENST00000566780

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 146|54 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.82, LOF (oe): 1.51, misssense (oe): 1.67, synonymous (oe): 1.71 ? (gnomAD)

Ensembl transcript ID

ENST00000566780.6

Genbank transcript ID

NM_016373 (exact from MANE), NM_001291997 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.885G>A
g.333182G>A

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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

No

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered cDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMQQGAATTV
YCAAVPELEG LGGMYFNNCC RCMPSPEAQS EETARTLWAL SERLIQERLG SQSG*

Mutated AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWHKAKVEAM
TLDLALLRSV QHFAEAFKAK NVPLHVLVCN AATFALPWSL TKDGLETTFQ VNHLGHFYLV
QLLQDVLCRS APARVIVVSS ESHRFTDIND SLGKLDFSRL SPTKNDYWAM LAYNRSKLCN
ILFSNELHRR LSPRGVTSNA VHPGNMMYSN IHRSWWVYTL LFTLARPFTK SMQQGAATTV
YCAAVPELEG LGGMYFNNCC RCMPSPEAQS EETARTLWAL SERLIQERLG SQSG*

Position of stopcodon in wt / mu CDS

1245 / 1245

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

415 / 415

Position of stopcodon in wt / mu cDNA

1370 / 1370

Position of start ATG in wt / mu cDNA

126 / 126

Last intron/exon boundary

1181

Theoretical NMD boundary in CDS

1005

Length of CDS

1245

Coding sequence (CDS) position

885

cDNA position

1010

gDNA position

333182

Chromosomal position

78432581

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:

16:78432581G>A_4_ENST00000406884

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 149|51 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.91, LOF (oe): 1.57, misssense (oe): 1.62, synonymous (oe): 1.63 ? (gnomAD)

Ensembl transcript ID

ENST00000406884.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.516+268292G>A
g.333182G>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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

N/A

AA sequence altered

N/A

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGFET AKSFALHGAH VILACRNMAR ASEAVSRILE EWQQGAATTV
YCAAVPELEG LGGMYFNNCC RCMPSPEAQS EETARTLWAL SERLIQERLG SQSG*

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

126 / 126

Last intron/exon boundary

641

Theoretical NMD boundary in CDS

465

Length of CDS

705

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

333182

Chromosomal position

78432581

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:

16:78432581G>A_5_ENST00000539474

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 157|43 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.95, LOF (oe): 1.68, misssense (oe): 1.67, synonymous (oe): 1.58 ? (gnomAD)

Ensembl transcript ID

ENST00000539474.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.409+317427G>A
g.333182G>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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

N/A

AA sequence altered

N/A

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIGKAS CHVGRILKHT RVEELSLLPT AINRELPPPC TVLLSQNWRV
WEGCTSTTAA AACPHQKLRA KRRPGPCGRS ARG*

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

126 / 126

Last intron/exon boundary

610

Theoretical NMD boundary in CDS

434

Length of CDS

642

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

333182

Chromosomal position

78432581

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:

16:78432581G>A_3_ENST00000402655

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 158|42 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr16:78432581G>A (GRCh38)

Gene symbol

WWOX

Gene constraints

LOEUF: 1.94, LOF (oe): 1.63, misssense (oe): 1.82, synonymous (oe): 1.73 ? (gnomAD)

Ensembl transcript ID

ENST00000402655.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.409+317427G>A
g.333182G>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	rs79771882
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	114	14153	14267

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.602	1
	-0.028	0.932
(flanking)	6.301	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

N/A

AA sequence altered

N/A

Chromosome

16

Strand

1

Original gDNA sequence snippet

GCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCT

Altered gDNA sequence snippet

GCGATGCTGGCTTATAACAGATCCAAGCTCTGCAACATCCT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAALRYAGLD DTDSEDELPP GWEERTTKDG WVYYANHTEE KTQWEHPKTG KRKRVAGDLP
YGWEQETDEN GQVFFVDHIN KRTTYLDPRL AFTVDDNPTK PTTRQRYDGS TTAMEILQGR
DFTGKVVVVT GANSGIATGS CHHRVLCCCP RTGGSGRDVL QQLLPLHALT RSSERRDGPD
PVGAQREADP RTAWQPVRLS GAQSGWAHTP ALCVSPHASA RAGPLPNVPP TQIRKSKGNK
SSHNRVKNLK YQWEAGNSWG KVSLFWGWAR HRSLCFLVVA CLKVKTCLVC RFRISLEKHQ
QFSFFYCYRI A*

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

126 / 126

Last intron/exon boundary

534

Theoretical NMD boundary in CDS

358

Length of CDS

936

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

333182

Chromosomal position

78432581

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