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: ENST00000648719
Querying Taster for transcript #2: ENST00000649235
Querying Taster for transcript #3: ENST00000649842
Querying Taster for transcript #4: ENST00000265968
Querying Taster for transcript #5: ENST00000647990
Querying Taster for transcript #6: ENST00000533783
MT speed 2.31 s - this script 4.669614 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000265968(MANE Select)	CSRP3	Deleterious	88\|12	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000647990	CSRP3	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000649235	CSRP3	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000533783	CSRP3	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000649842	CSRP3	Deleterious	188\|12	without_aae	No	Single base exchange	N/A
ENST00000648719	CSRP3	Deleterious	193\|7	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

11:19188286A>G_4_ENST00000265968

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.31, LOF (oe): 0.92, misssense (oe): 0.92, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000265968.9

Genbank transcript ID

NM_003476 (exact from MANE)

UniProt / AlphaMissense peptide

CSRP3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.131T>C
g.22286T>C

AA changes

AAE:	L44P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

Species	Match	AA	Alignment
Human		44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E	I
mutated	not conserved	44	T	C	F	H	C	M	A	C	R	K	A	P	D	S	T	T	V	A	A	H	E	S	E
Ptroglodytes	all identical	44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E
Mmulatta	all identical	88	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E
Fcatus	all identical	121	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E
Mmusculus	all identical	44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E
Ggallus	all identical	44	T	C	F	L	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E
Trubripes	all identical	44	T	C	F	I	C	M	S	C	R	K	G	L	D	S	T	T	V	A	A	H	E	S	E
Drerio	no homologue
Dmelanogaster	all identical	45	T	C	F	K	C	S	M	C	N	K	A	L	D	S	T	N	C	T	E	H	E	K	E
Celegans	no homologue
Xtropicalis	all identical	44	P	C	F	I	C	M	V	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E

Protein features

Start (aa)	End (aa)	Feature	Details
1	194	CHAIN		lost
10	61	DOMAIN	LIM zinc-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Mutated AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKAPDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Position of stopcodon in wt / mu CDS

585 / 585

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

195 / 195

Position of stopcodon in wt / mu cDNA

643 / 643

Position of start ATG in wt / mu cDNA

59 / 59

Last intron/exon boundary

566

Theoretical NMD boundary in CDS

457

Length of CDS

585

Coding sequence (CDS) position

131

cDNA position

189

gDNA position

22286

Chromosomal position

19188286

Speed

0.48 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:

11:19188286A>G_5_ENST00000647990

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.40, LOF (oe): 0.92, misssense (oe): 0.90, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000647990.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.131T>C
g.22286T>C

AA changes

AAE:	L44P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

Species	Match	AA	Alignment
Human		44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E	I
mutated	not conserved	44	T	C	F	H	C	M	A	C	R	K	A	P	D	S	T	T	V	A	A	H	E	S	E
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQHLGTRPV SAVPSVGRVW SPQMSLTKMG
NFIAKFAMPK ILAPRVLGLE ALHNKWKRKN EEVRRFSDFL RA*

Mutated AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKAPDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQHLGTRPV SAVPSVGRVW SPQMSLTKMG
NFIAKFAMPK ILAPRVLGLE ALHNKWKRKN EEVRRFSDFL RA*

Position of stopcodon in wt / mu CDS

489 / 489

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

163 / 163

Position of stopcodon in wt / mu cDNA

540 / 540

Position of start ATG in wt / mu cDNA

52 / 52

Last intron/exon boundary

426

Theoretical NMD boundary in CDS

324

Length of CDS

489

Coding sequence (CDS) position

131

cDNA position

182

gDNA position

22286

Chromosomal position

19188286

Speed

0.53 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:

11:19188286A>G_2_ENST00000649235

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.31, LOF (oe): 0.92, misssense (oe): 0.92, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000649235.1

Genbank transcript ID

UniProt / AlphaMissense peptide

CSRP3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.131T>C
g.22286T>C

AA changes

AAE:	L44P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

Species	Match	AA	Alignment
Human		44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E	I
mutated	not conserved	44	T	C	F	H	C	M	A	C	R	K	A	P	D	S	T	T	V	A	A	H	E	S	E
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	194	CHAIN		lost
10	61	DOMAIN	LIM zinc-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Mutated AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKAPDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Position of stopcodon in wt / mu CDS

585 / 585

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

195 / 195

Position of stopcodon in wt / mu cDNA

810 / 810

Position of start ATG in wt / mu cDNA

226 / 226

Last intron/exon boundary

733

Theoretical NMD boundary in CDS

457

Length of CDS

585

Coding sequence (CDS) position

131

cDNA position

356

gDNA position

22286

Chromosomal position

19188286

Speed

0.53 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:

11:19188286A>G_6_ENST00000533783

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.31, LOF (oe): 0.92, misssense (oe): 0.92, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000533783.2

Genbank transcript ID

UniProt / AlphaMissense peptide

CSRP3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.131T>C
g.22286T>C

AA changes

AAE:	L44P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

Species	Match	AA	Alignment
Human		44	T	C	F	H	C	M	A	C	R	K	A	L	D	S	T	T	V	A	A	H	E	S	E	I
mutated	not conserved	44	T	C	F	H	C	M	A	C	R	K	A	P	D	S	T	T	V	A	A	H	E	S	E
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	194	CHAIN		lost
10	61	DOMAIN	LIM zinc-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

19

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered cDNA sequence snippet

CATGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Mutated AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKAPDSTTVA AHESEIYCKV
CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
IGFGGLTQQV EKKE*

Position of stopcodon in wt / mu CDS

585 / 585

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

195 / 195

Position of stopcodon in wt / mu cDNA

824 / 824

Position of start ATG in wt / mu cDNA

240 / 240

Last intron/exon boundary

747

Theoretical NMD boundary in CDS

457

Length of CDS

585

Coding sequence (CDS) position

131

cDNA position

370

gDNA position

22286

Chromosomal position

19188286

Speed

0.73 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:

11:19188286A>G_3_ENST00000649842

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 188|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.60, LOF (oe): 1.10, misssense (oe): 0.93, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000649842.1

Genbank transcript ID

NM_001369404 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.113-1938T>C
g.22286T>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	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	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

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCSPQ SRHAQLPPAT LPNSLRSLES
PRSALDVASQ SMLLRRLWEV ASLGTRPVSA VPSVGRVWSP QMSLTKMGNF IAKFAMPKIL
APRVLGLEAL HNKWKRKNEE VRRFSDFLRA *

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

65 / 65

Last intron/exon boundary

403

Theoretical NMD boundary in CDS

288

Length of CDS

453

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

22286

Chromosomal position

19188286

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:

11:19188286A>G_1_ENST00000648719

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 193|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:19188286A>G (GRCh38)

Gene symbol

CSRP3

Gene constraints

LOEUF: 1.62, LOF (oe): 0.89, misssense (oe): 0.88, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000648719.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.113-3241T>C
g.22286T>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	rs104894205
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	65	65

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.093	0.59
	9.22	1
(flanking)	5.776	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

11

Strand

-1

Original gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCTTGACAGCACGACAGTCGCGG

Altered gDNA sequence snippet

AGTGGCCTGCAGGAAGGCTCCTGACAGCACGACAGTCGCGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCTLA QDLFPLCHLW EESGVHKCH*

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

106 / 106

Last intron/exon boundary

311

Theoretical NMD boundary in CDS

155

Length of CDS

180

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

22286

Chromosomal position

19188286

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