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: ENST00000359373
Querying Taster for transcript #2: ENST00000538536
Querying Taster for transcript #3: ENST00000334805
Querying Taster for transcript #4: ENST00000543304
Querying Taster for transcript #5: ENST00000545082
MT speed 0.41 s - this script 2.838996 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000334805(MANE Select)	STARD10	Deleterious	87\|13	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000538536	STARD10	Deleterious	97\|3	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000543304	STARD10	Deleterious	97\|3	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000545082	STARD10	Deleterious	98\|2	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000359373	ARAP1	Deleterious	186\|14	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

11:72755753C>G_3_ENST00000334805

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 87|13 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:72755753C>G (GRCh38)

Gene symbol

STARD10

Gene constraints

LOEUF: 0.91, LOF (oe): 0.65, misssense (oe): 0.81, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000334805.11

Genbank transcript ID

NM_006645 (exact from MANE)

UniProt / AlphaMissense peptide

STA10_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.578G>C
g.38295G>C

AA changes

AAE:	G193A	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370159113
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	153	153

Protein conservation

Species	Match	AA	Alignment
Human		193	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S	Q
mutated	not conserved	193	V	I	T	Y	L	A	Q	V	D	P	K	A	S	L	P	K	W	V	V	N	K	S	S
Ptroglodytes	all identical	193	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S
Mmulatta	all identical	270	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S
Fcatus	all identical	230	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S
Mmusculus	all identical	266	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S
Ggallus	no alignment	n/a
Trubripes	all identical	176	I	L	T	Y	L	A	Q	V	D	P	R	G	L	L	P	K
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	all identical	176	E	V	I	Y	I	S	H	S	D	P	K	G	K	L	P	T	W	L	V	N	R
Xtropicalis	all identical	177	T	L	I	Y	L	A	Q	V	D	P	R	G	S	L	P

Protein features

Start (aa)	End (aa)	Feature	Details
1	291	CHAIN		lost
14	224	DOMAIN	START	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.272	0.354
	7.729	1
(flanking)	7.729	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	38294	wt: 10.91 / mu: 9.91	-	wt: gccctcacag\|GCTCCTTACC mu: gccctcacag\|CCTCCTTACC

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGGCTCCTTACCCAAGTGGGTGG

Altered gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGCCTCCTTACCCAAGTGGGTGG

Original cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGGCTCCTTACCCAAGTGGGTGG

Altered cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGCCTCCTTACCCAAGTGGGTGG

Wildtype AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE VGWNLTYSRA GVSVWVQAVE
MDRTLHKIKC RMECCDVPAE TLYDVLHDIE YRKKWDSNVI ETFDIARLTV NADVGYYSWR
CPKPLKNRDV ITLRSWLPMG ADYIIMNYSV KHPKYPPRKD LVRAVSIQTG YLIQSTGPKS
CVITYLAQVD PKGSLPKWVV NKSSQFLAPK AMKKMYKACL KYPEWKQKHL PHFKPWLHPE
QSPLPSLALS ELSVQHADSL ENIDESAVAE SREERMGGAG GEGSDDDTSL T*

Mutated AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE VGWNLTYSRA GVSVWVQAVE
MDRTLHKIKC RMECCDVPAE TLYDVLHDIE YRKKWDSNVI ETFDIARLTV NADVGYYSWR
CPKPLKNRDV ITLRSWLPMG ADYIIMNYSV KHPKYPPRKD LVRAVSIQTG YLIQSTGPKS
CVITYLAQVD PKASLPKWVV NKSSQFLAPK AMKKMYKACL KYPEWKQKHL PHFKPWLHPE
QSPLPSLALS ELSVQHADSL ENIDESAVAE SREERMGGAG GEGSDDDTSL T*

Position of stopcodon in wt / mu CDS

876 / 876

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

292 / 292

Position of stopcodon in wt / mu cDNA

2162 / 2162

Position of start ATG in wt / mu cDNA

1287 / 1287

Last intron/exon boundary

1916

Theoretical NMD boundary in CDS

579

Length of CDS

876

Coding sequence (CDS) position

578

cDNA position

1864

gDNA position

38295

Chromosomal position

72755753

Speed

0.12 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:

11:72755753C>G_2_ENST00000538536

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:72755753C>G (GRCh38)

Gene symbol

STARD10

Gene constraints

LOEUF: 0.90, LOF (oe): 0.62, misssense (oe): 0.82, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000538536.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.440G>C
g.38295G>C

AA changes

AAE:	G147A	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370159113
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	153	153

Protein conservation

Species	Match	AA	Alignment
Human		147	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S	Q
mutated	not conserved	147	V	I	T	Y	L	A	Q	V	D	P	K	A	S	L	P	K	W	V	V	N	K	S	S
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)	-0.272	0.354
	7.729	1
(flanking)	7.729	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	38294	wt: 10.91 / mu: 9.91	-	wt: gccctcacag\|GCTCCTTACC mu: gccctcacag\|CCTCCTTACC

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGGCTCCTTACCCAAGTGGGTGG

Altered gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGCCTCCTTACCCAAGTGGGTGG

Original cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGGCTCCTTACCCAAGTGGGTGG

Altered cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGCCTCCTTACCCAAGTGGGTGG

Wildtype AA sequence

MEKLAASTEP QGPRPVLGRE SVQCRMECCD VPAETLYDVL HDIEYRKKWD SNVIETFDIA
RLTVNADVGY YSWRCPKPLK NRDVITLRSW LPMGADYIIM NYSVKHPKYP PRKDLVRAVS
IQTGYLIQST GPKSCVITYL AQVDPKGSLP KWVVNKSSQF LAPKAMKKMY KACLKYPEWK
QKHLPHFKPW LHPEQSPLPS LALSELSVQH ADSLENIDES AVAESREERM GGAGGEGSDD
DTSLT*

Mutated AA sequence

MEKLAASTEP QGPRPVLGRE SVQCRMECCD VPAETLYDVL HDIEYRKKWD SNVIETFDIA
RLTVNADVGY YSWRCPKPLK NRDVITLRSW LPMGADYIIM NYSVKHPKYP PRKDLVRAVS
IQTGYLIQST GPKSCVITYL AQVDPKASLP KWVVNKSSQF LAPKAMKKMY KACLKYPEWK
QKHLPHFKPW LHPEQSPLPS LALSELSVQH ADSLENIDES AVAESREERM GGAGGEGSDD
DTSLT*

Position of stopcodon in wt / mu CDS

738 / 738

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

246 / 246

Position of stopcodon in wt / mu cDNA

1620 / 1620

Position of start ATG in wt / mu cDNA

883 / 883

Last intron/exon boundary

1374

Theoretical NMD boundary in CDS

441

Length of CDS

738

Coding sequence (CDS) position

440

cDNA position

1322

gDNA position

38295

Chromosomal position

72755753

Speed

0.05 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:

11:72755753C>G_4_ENST00000543304

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:72755753C>G (GRCh38)

Gene symbol

STARD10

Gene constraints

LOEUF: 0.91, LOF (oe): 0.65, misssense (oe): 0.81, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000543304.5

Genbank transcript ID

UniProt / AlphaMissense peptide

STA10_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.578G>C
g.38295G>C

AA changes

AAE:	G193A	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370159113
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	153	153

Protein conservation

Species	Match	AA	Alignment
Human		193	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S	Q
mutated	not conserved	193	V	I	T	Y	L	A	Q	V	D	P	K	A	S	L	P	K	W	V	V	N	K	S	S
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	291	CHAIN		lost
14	224	DOMAIN	START	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.272	0.354
	7.729	1
(flanking)	7.729	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	38294	wt: 10.91 / mu: 9.91	-	wt: gccctcacag\|GCTCCTTACC mu: gccctcacag\|CCTCCTTACC

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGGCTCCTTACCCAAGTGGGTGG

Altered gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGCCTCCTTACCCAAGTGGGTGG

Original cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGGCTCCTTACCCAAGTGGGTGG

Altered cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGCCTCCTTACCCAAGTGGGTGG

Wildtype AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE VGWNLTYSRA GVSVWVQAVE
MDRTLHKIKC RMECCDVPAE TLYDVLHDIE YRKKWDSNVI ETFDIARLTV NADVGYYSWR
CPKPLKNRDV ITLRSWLPMG ADYIIMNYSV KHPKYPPRKD LVRAVSIQTG YLIQSTGPKS
CVITYLAQVD PKGSLPKWVV NKSSQFLAPK AMKKMYKACL KYPEWKQKHL PHFKPWLHPE
QSPLPSLALS ELSVQHADSL ENIDESAVAE SREERMGGAG GEGSDDDTSL T*

Mutated AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE VGWNLTYSRA GVSVWVQAVE
MDRTLHKIKC RMECCDVPAE TLYDVLHDIE YRKKWDSNVI ETFDIARLTV NADVGYYSWR
CPKPLKNRDV ITLRSWLPMG ADYIIMNYSV KHPKYPPRKD LVRAVSIQTG YLIQSTGPKS
CVITYLAQVD PKASLPKWVV NKSSQFLAPK AMKKMYKACL KYPEWKQKHL PHFKPWLHPE
QSPLPSLALS ELSVQHADSL ENIDESAVAE SREERMGGAG GEGSDDDTSL T*

Position of stopcodon in wt / mu CDS

876 / 876

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

292 / 292

Position of stopcodon in wt / mu cDNA

1345 / 1345

Position of start ATG in wt / mu cDNA

470 / 470

Last intron/exon boundary

1099

Theoretical NMD boundary in CDS

579

Length of CDS

876

Coding sequence (CDS) position

578

cDNA position

1047

gDNA position

38295

Chromosomal position

72755753

Speed

0.14 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:

11:72755753C>G_5_ENST00000545082

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:72755753C>G (GRCh38)

Gene symbol

STARD10

Gene constraints

LOEUF: 0.97, LOF (oe): 0.69, misssense (oe): 0.81, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000545082.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.491G>C
g.38295G>C

AA changes

AAE:	G164A	?
Score:	60

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370159113
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	153	153

Protein conservation

Species	Match	AA	Alignment
Human		164	V	I	T	Y	L	A	Q	V	D	P	K	G	S	L	P	K	W	V	V	N	K	S	S	Q
mutated	not conserved	164	V	I	T	Y	L	A	Q	V	D	P	K	A	S	L	P	K	W	V	V	N	K	S	S
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)	-0.272	0.354
	7.729	1
(flanking)	7.729	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	38294	wt: 10.91 / mu: 9.91	-	wt: gccctcacag\|GCTCCTTACC mu: gccctcacag\|CCTCCTTACC

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGGCTCCTTACCCAAGTGGGTGG

Altered gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGCCTCCTTACCCAAGTGGGTGG

Original cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGGCTCCTTACCCAAGTGGGTGG

Altered cDNA sequence snippet

GGCCCAGGTGGACCCCAAAGCCTCCTTACCCAAGTGGGTGG

Wildtype AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE CRMECCDVPA ETLYDVLHDI
EYRKKWDSNV IETFDIARLT VNADVGYYSW RCPKPLKNRD VITLRSWLPM GADYIIMNYS
VKHPKYPPRK DLVRAVSIQT GYLIQSTGPK SCVITYLAQV DPKGSLPKWV VNKSSQFLAP
KAMKKMYKAC LKYPEWKQKH LPHFKPWLHP EQSPLPSLAL SELSVQHADS LENIDESAVA
ESREERMGGA GGEGSDDDTS LT*

Mutated AA sequence

MEKLAASTEP QGPRPVLGRE SVQVPDDQDF RSFRSECEAE CRMECCDVPA ETLYDVLHDI
EYRKKWDSNV IETFDIARLT VNADVGYYSW RCPKPLKNRD VITLRSWLPM GADYIIMNYS
VKHPKYPPRK DLVRAVSIQT GYLIQSTGPK SCVITYLAQV DPKASLPKWV VNKSSQFLAP
KAMKKMYKAC LKYPEWKQKH LPHFKPWLHP EQSPLPSLAL SELSVQHADS LENIDESAVA
ESREERMGGA GGEGSDDDTS LT*

Position of stopcodon in wt / mu CDS

789 / 789

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

263 / 263

Position of stopcodon in wt / mu cDNA

1081 / 1081

Position of start ATG in wt / mu cDNA

293 / 293

Last intron/exon boundary

835

Theoretical NMD boundary in CDS

492

Length of CDS

789

Coding sequence (CDS) position

491

cDNA position

783

gDNA position

38295

Chromosomal position

72755753

Speed

0.06 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:

11:72755753C>G_1_ENST00000359373

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 186|14 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:72755753C>G (GRCh38)

Gene symbol

ARAP1

Gene constraints

LOEUF: 0.57, LOF (oe): 0.47, misssense (oe): 0.88, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000359373.9

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-127-23156G>C
g.37847G>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	rs370159113
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	153	153

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.272	0.354
	7.729	1
(flanking)	7.729	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

TCCCTTCCCTGCCCTCACAGGCTCCTTACCCAAGTGGGTGG

Altered gDNA sequence snippet

TCCCTTCCCTGCCCTCACAGCCTCCTTACCCAAGTGGGTGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAEAGDAALS VAEWLRALHL EQYTGLFEQH GLVWATECQG LSDTRLMDMG MLLPGHRRRI
LAGLLRAHTS PAPAPRPTPR PVPMKRHIFR SPPVPATPPE PLPTTTEDEG LPAAPPIPPR
RSCLPPTCFT TPSTAAPDPV LPPLPAKRHL AELSVPPVPP RTGPPRLLVS LPTKEEESLL
PSLSSPPQPQ SEEPLSTLPQ GPPQPPSPPP CPPEIPPKPV RLFPEFDDSD YDEVPEEGPG
APARVMTKKE EPPPSRVPRA VRVASLLSEG EELSGDDQGD EEEDDHAYEG VPNGGWHTSS
LSLSLPSTIA APHPMDGPPG GSTPVTPVIK AGWLDKNPPQ GSYIYQKRWV RLDTDHLRYF
DSNKDAYSKR FISVACISHV AAIGDQKFEV ITNNRTFAFR AESDVERKEW MQALQQAMAE
QRARARLSSA YLLGVPGSEQ PDRAGSLELR GFKNKLYVAV VGDKVQLYKN LEEYHLGIGI
TFIDMSVGNV KEVDRRSFDL TTPYRIFSFS ADSELEKEQW LEAMQGAIAE ALSTSEVAER
IWAAAPNRFC ADCGAPQPDW ASINLCVVIC KRCAGEHRGL GAGVSKVRSL KMDRKVWTET
LIELFLQLGN GAGNRFWAAN VPPSEALQPS SSPSTRRCHL EAKYREGKYR RYHPLFGNQE
ELDKALCAAV TTTDLAETQA LLGCGAGINC FSGDPEAPTP LALAEQAGQT LQMEFLRNNR
TTEVPRLDSM KPLEKHYSVV LPTVSHSGFL YKTASAGKLL QDRRAREEFS RRWCVLGDGV
LSYFENERAV TPNGEIRASE IVCLAVPPPD THGFEHTFEV YTEGERLYLF GLESAEQAHE
WVKCIAKAFV PPLAEDLLAR DFERLGRLPY KAGLSLQRAQ EGWFSLSGSE LRAVFPEGPC
EEPLQLRKLQ ELSIQGDSEN QVLVLVERRR TLYIQGERRL DFMGWLGAIQ KAAASMGDTL
SEQQLGDSDI PVIVYRCVDY ITQCGLTSEG IYRKCGQTSK TQRLLESLRQ DARSVHLKEG
EQHVDDVSSA LKRFLRDLPD GLFTRAQRLT WLEASEIEDE EEKVSRYREL LVRLPPVNRA
TVKALISHLY CVQCFSDTNQ MNVHNLAIVF GPTLFQTDGQ DYKAGRVVED LINHYVVVFS
VDEEELRKQR EEITAIVKMR VAGTASGTQH AGDFICTVYL EEKKAETEQH IKVPASMTAE
ELTLEILDRR NVGIREKDYW TCFEVNEREE AERPLHFAEK VLPILHGLGT DSHLVVKKHQ
AMEAMLLYLA SRVGDTKHGM MKFREDRSLL GLGLPSGGFH DRYFILNSSC LRLYKEVRSH
RPEKEWPIKS LKVYLGVKKK LRPPTCWGFT VVHETEKHEK QQWYLCCDTQ MELREWFATF
LFVQHDGLVW PSEPSRVSRA VPEVRLGSVS LIPLRGSENE MRRSVAAFTA DPLSLLRNV*

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

853 / 853

Last intron/exon boundary

5154

Theoretical NMD boundary in CDS

4251

Length of CDS

4320

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

37847

Chromosomal position

72755753

Speed

0.04 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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