MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000490576
Querying Taster for transcript #2: ENST00000494864
Querying Taster for transcript #3: ENST00000614273
Querying Taster for transcript #4: ENST00000714520
Querying Taster for transcript #5: ENST00000610745
MT speed 0.43 s - this script 2.788098 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000714520	CYP1B1	Benign	10\|90	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000494864	CYP1B1	Benign	17\|183	without_aae	No	Single base exchange	N/A
ENST00000610745(MANE Select)	CYP1B1	Benign	26\|74	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000614273	CYP1B1	Benign	31\|69	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000490576	CYP1B1	Benign	38\|62	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:38075247G>A_4_ENST00000714520

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 10|90 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:38075247G>A (GRCh38)

Gene symbol

CYP1B1

Gene constraints

no data

Ensembl transcript ID

ENST00000714520.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.142C>T
g.34656C>T

AA changes

AAE:	R48W	?
Score:	101

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs10012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		48	Q	R	L	L	R	Q	R	R	R	Q	L	R	S	A	P	P	G	P	F	A	W	P	L	I
mutated	not conserved	48	Q	R	L	L	R	Q	R	R	R	Q	L	W	S	A	P	P	G	P	F	A	W	P	L
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)	-0.877	0
	-0.744	0
(flanking)	-2.771	0

?

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

2

Strand

-1

Original gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Original cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Wildtype AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Mutated AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLWSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

Position of stopcodon in wt / mu cDNA

2035 / 2035

Position of start ATG in wt / mu cDNA

404 / 404

Last intron/exon boundary

1446

Theoretical NMD boundary in CDS

992

Length of CDS

1632

Coding sequence (CDS) position

142

cDNA position

545

gDNA position

34656

Chromosomal position

38075247

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:

2:38075247G>A_2_ENST00000494864

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 17|183 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:38075247G>A (GRCh38)

Gene symbol

CYP1B1

Gene constraints

LOEUF: 1.00, LOF (oe): 0.48, misssense (oe): 1.09, synonymous (oe): 1.08 ? (gnomAD)

Ensembl transcript ID

ENST00000494864.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-70-3937C>T
g.34656C>T

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	rs10012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.877	0
	-0.744	0
(flanking)	-2.771	0

?

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

2

Strand

-1

Original gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGDQPNLPYV LAFLYEAMRF SSFVPVTIPH ATTANTSVLG YHIPKDTVVF VNQWSVNHDP
LKWPNPENFD PARFLDKDGL INKDLTSRVM IFSVGKRRCI GEELSKMQLF LFISILAHQC
DFRANPNEPA KMNFSYGLTI KPKSFKVNVT LRESMELLDS AVQNLQAKET CQ*

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

305 / 305

Last intron/exon boundary

234

Theoretical NMD boundary in CDS

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

Length of CDS

519

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34656

Chromosomal position

38075247

Speed

0.03 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:

2:38075247G>A_5_ENST00000610745

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 26|74 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:38075247G>A (GRCh38)

Gene symbol

CYP1B1

Gene constraints

LOEUF: 1.09, LOF (oe): 0.76, misssense (oe): 1.21, synonymous (oe): 1.23 ? (gnomAD)

Ensembl transcript ID

ENST00000610745.5

Genbank transcript ID

NM_000104 (exact from MANE)

UniProt / AlphaMissense peptide

CP1B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.142C>T
g.34656C>T

AA changes

AAE:	R48W	?
Score:	101

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs10012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		48	Q	R	L	L	R	Q	R	R	R	Q	L	R	S	A	P	P	G	P	F	A	W	P	L	I
mutated	not conserved	48	Q	R	L	L	R	Q	R	R	R	Q	L	W	S	A	P	P	G	P	F	A	W	P	L
Ptroglodytes	not conserved	48	Q	R	L	L	R	Q	R	R	R	Q	L	G	S	A	P	P	G	P	F	A	W	P	L
Mmulatta	not conserved	48	Q	W	L	L	R	Q	R	R	R	Q	L	G	S	T	P	P	G	P	F	A	W	P	L
Fcatus	not conserved	48	Q	W	L	L	R	Q	R	R	R	Q	P	G	S	A	P	P	G	P	F	A	W	P	L
Mmusculus	not conserved	48	Q	W	L	L	R	Q	W	Q	R	K	P	W	S	S	P	P	G	P	F	P	W	P	L
Ggallus	all identical	52	K	L	L	LQRR	R	W	R	R	Q	G	Q	R	L	A	P	P	G	P	F	P	W	P	L
Trubripes	not conserved	37	L	Q	L	W	R	W	R	R	R	R	P	G	G	C	P	P	G	P	R	A	W	P	I
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	40	H	I	L	K	W	I	H	EWIIP	R	W	I	R	S	SQ	P	P	G	P	F	P	W	P	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	543	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.877	0
	-0.744	0
(flanking)	-2.771	0

?

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

2

Strand

-1

Original gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Original cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Wildtype AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Mutated AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLWSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

Position of stopcodon in wt / mu cDNA

2005 / 2005

Position of start ATG in wt / mu cDNA

374 / 374

Last intron/exon boundary

1416

Theoretical NMD boundary in CDS

992

Length of CDS

1632

Coding sequence (CDS) position

142

cDNA position

515

gDNA position

34656

Chromosomal position

38075247

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:

2:38075247G>A_3_ENST00000614273

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 31|69 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:38075247G>A (GRCh38)

Gene symbol

CYP1B1

Gene constraints

LOEUF: 1.09, LOF (oe): 0.76, misssense (oe): 1.21, synonymous (oe): 1.23 ? (gnomAD)

Ensembl transcript ID

ENST00000614273.1

Genbank transcript ID

UniProt / AlphaMissense peptide

CP1B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.142C>T
g.34656C>T

AA changes

AAE:	R48W	?
Score:	101

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs10012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		48	Q	R	L	L	R	Q	R	R	R	Q	L	R	S	A	P	P	G	P	F	A	W	P	L	I
mutated	not conserved	48	Q	R	L	L	R	Q	R	R	R	Q	L	W	S	A	P	P	G	P	F	A	W	P	L
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	543	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.877	0
	-0.744	0
(flanking)	-2.771	0

?

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

2

Strand

-1

Original gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Original cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Wildtype AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Mutated AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLWSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

Position of stopcodon in wt / mu cDNA

1934 / 1934

Position of start ATG in wt / mu cDNA

303 / 303

Last intron/exon boundary

1345

Theoretical NMD boundary in CDS

992

Length of CDS

1632

Coding sequence (CDS) position

142

cDNA position

444

gDNA position

34656

Chromosomal position

38075247

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:

2:38075247G>A_1_ENST00000490576

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 38|62 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:38075247G>A (GRCh38)

Gene symbol

CYP1B1

Gene constraints

LOEUF: 1.81, LOF (oe): 0.00, misssense (oe): 1.50, synonymous (oe): 1.44 ? (gnomAD)

Ensembl transcript ID

ENST00000490576.2

Genbank transcript ID

UniProt / AlphaMissense peptide

CP1B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.142C>T
g.34656C>T

AA changes

AAE:	R48W	?
Score:	101

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs10012
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		48	Q	R	L	L	R	Q	R	R	R	Q	L	R	S	A	P	P	G	P	F	A	W	P	L	I
mutated	not conserved	48	Q	R	L	L	R	Q	R	R	R	Q	L	W	S	A	P	P	G	P	F	A	W	P	L
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	543	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.877	0
	-0.744	0
(flanking)	-2.771	0

?

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

2

Strand

-1

Original gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered gDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Original cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCG

Altered cDNA sequence snippet

GGCAACGGAGGCGGCAGCTCTGGTCCGCGCCCCCGGGCCCG

Wildtype AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Mutated AA sequence

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLWSA PPGPFAWPLI
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE
TCQ*

Position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

Position of stopcodon in wt / mu cDNA

1808 / 1808

Position of start ATG in wt / mu cDNA

177 / 177

Last intron/exon boundary

1219

Theoretical NMD boundary in CDS

992

Length of CDS

1632

Coding sequence (CDS) position

142

cDNA position

318

gDNA position

34656

Chromosomal position

38075247

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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