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: ENST00000292427
Querying Taster for transcript #2: ENST00000517471
Querying Taster for transcript #3: ENST00000377675
MT speed 0.1 s - this script 2.525222 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
ENST00000517471	CYP11B1	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000377675	CYP11B1	Deleterious	92\|8	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000292427(MANE Select)	CYP11B1	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:142876849A>T_2_ENST00000517471

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:142876849A>T (GRCh38)

Gene symbol

CYP11B1

Gene constraints

LOEUF: 0.95, LOF (oe): 0.70, misssense (oe): 1.02, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000517471.5

Genbank transcript ID

NM_001026213 (by similarity)

UniProt / AlphaMissense peptide

C11B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.632T>A
g.2998T>A

AA changes

AAE:	L211Q	?
Score:	113

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs368125568
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		211	S	N	L	A	L	F	G	E	R	L	G	L	V	G	H	S	P	S	S	A	S	L	N	F
mutated	not conserved	211	S	N	L	A	L	F	G	E	R	L	G	Q	V	G	H	S	P	S	S	A	S	L	N
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
25	503	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.342	0
	5.879	0.994
(flanking)	1.837	0.987

?

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

8

Strand

-1

Original gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Original cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Wildtype AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG VLKHLQVETL TQEDIKMVYS
FILRPSMFPL LTFRAIN*

Mutated AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA
RGSLTLDVQP SIFHYTIEAS NLALFGERLG QVGHSPSSAS LNFLHALEVM FKSTVQLMFM
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG VLKHLQVETL TQEDIKMVYS
FILRPSMFPL LTFRAIN*

Position of stopcodon in wt / mu CDS

1314 / 1314

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

438 / 438

Position of stopcodon in wt / mu cDNA

1325 / 1325

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

1211

Theoretical NMD boundary in CDS

1149

Length of CDS

1314

Coding sequence (CDS) position

632

cDNA position

643

gDNA position

2998

Chromosomal position

142876849

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:

8:142876849A>T_3_ENST00000377675

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:142876849A>T (GRCh38)

Gene symbol

CYP11B1

Gene constraints

LOEUF: 0.98, LOF (oe): 0.77, misssense (oe): 1.04, synonymous (oe): 1.10 ? (gnomAD)

Ensembl transcript ID

ENST00000377675.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.845T>A
g.2998T>A

AA changes

AAE:	L282Q	?
Score:	113

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs368125568
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		282	S	N	L	A	L	F	G	E	R	L	G	L	V	G	H	S	P	S	S	A	S	L	N	F
mutated	not conserved	282	S	N	L	A	L	F	G	E	R	L	G	Q	V	G	H	S	P	S	S	A	S	L	N
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)	-1.342	0
	5.879	0.994
(flanking)	1.837	0.987

?

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

8

Strand

-1

Original gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Original cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Wildtype AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR SRHSASFGRW GRSAARAGLW RCQGRGWCRA NPSSLQRGQD
SEALKYDLGG AGMVCVMLPE DVEKLQQVDS LHPHRMSLEP WVAYRQHRGH KCGVFLLNVA
DRGNSSPPFP GGIHGAPTHS GCRNGPEWRF NRLRLNPEVL SPNAVQRFLP MVDAVARDFS
QALKKKVLQN ARGSLTLDVQ PSIFHYTIEA SNLALFGERL GLVGHSPSSA SLNFLHALEV
MFKSTVQLMF MPRSLSRWTS PKVWKEHFEA WDCIFQYGDN CIQKIYQELA FSRPQQYTSI
VAELLLNAEL SPDAIKANSM ELTAGSVDTT VFPLLMTLFE LARNPNVQQA LRQESLAAAA
SISEHPQKAT TELPLLRAAL KETLRLYPVG LFLERVASSD LVLQNYHIPA GTLVRVFLYS
LGRNPALFPR PERYNPQRWL DIRGSGRNFY HVPFGFGMRQ CLGRRLAEAE MLLLLHHVLK
HLQVETLTQE DIKMVYSFIL RPSMFPLLTF RAIN*

Mutated AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR SRHSASFGRW GRSAARAGLW RCQGRGWCRA NPSSLQRGQD
SEALKYDLGG AGMVCVMLPE DVEKLQQVDS LHPHRMSLEP WVAYRQHRGH KCGVFLLNVA
DRGNSSPPFP GGIHGAPTHS GCRNGPEWRF NRLRLNPEVL SPNAVQRFLP MVDAVARDFS
QALKKKVLQN ARGSLTLDVQ PSIFHYTIEA SNLALFGERL GQVGHSPSSA SLNFLHALEV
MFKSTVQLMF MPRSLSRWTS PKVWKEHFEA WDCIFQYGDN CIQKIYQELA FSRPQQYTSI
VAELLLNAEL SPDAIKANSM ELTAGSVDTT VFPLLMTLFE LARNPNVQQA LRQESLAAAA
SISEHPQKAT TELPLLRAAL KETLRLYPVG LFLERVASSD LVLQNYHIPA GTLVRVFLYS
LGRNPALFPR PERYNPQRWL DIRGSGRNFY HVPFGFGMRQ CLGRRLAEAE MLLLLHHVLK
HLQVETLTQE DIKMVYSFIL RPSMFPLLTF RAIN*

Position of stopcodon in wt / mu CDS

1725 / 1725

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

575 / 575

Position of stopcodon in wt / mu cDNA

1732 / 1732

Position of start ATG in wt / mu cDNA

8 / 8

Last intron/exon boundary

1618

Theoretical NMD boundary in CDS

1560

Length of CDS

1725

Coding sequence (CDS) position

845

cDNA position

852

gDNA position

2998

Chromosomal position

142876849

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:

8:142876849A>T_1_ENST00000292427

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:142876849A>T (GRCh38)

Gene symbol

CYP11B1

Gene constraints

LOEUF: 0.92, LOF (oe): 0.69, misssense (oe): 1.03, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000292427.10

Genbank transcript ID

NM_000497 (exact from MANE)

UniProt / AlphaMissense peptide

C11B1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.632T>A
g.2998T>A

AA changes

AAE:	L211Q	?
Score:	113

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs368125568
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		211	S	N	L	A	L	F	G	E	R	L	G	L	V	G	H	S	P	S	S	A	S	L	N	F
mutated	not conserved	211	S	N	L	A	L	F	G	E	R	L	G	Q	V	G	H	S	P	S	S	A	S	L	N
Ptroglodytes	all identical	285	S	N	L	A	L	F	G	E	R	L	G	L	V	G	H	S	P	S	S	A	S	L	N
Mmulatta	all identical	712	S	N	L	A	L	F	G	E	R	L	G	L	V	G	H	S	P	S	S	A	S	L	S
Fcatus	all identical	211	S	N	L	A	L	F	G	E	R	L	G	L	L	G	H	S	P	S	P	A	S	L	N
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
25	503	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.342	0
	5.879	0.994
(flanking)	1.837	0.987

?

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

8

Strand

-1

Original gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered gDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Original cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTT

Altered cDNA sequence snippet

TTTTGGAGAGCGGCTGGGCCAGGTTGGCCACAGCCCCAGTT

Wildtype AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP
ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED
IKMVYSFILR PSMFPLLTFR AIN*

Mutated AA sequence

MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA
RGSLTLDVQP SIFHYTIEAS NLALFGERLG QVGHSPSSAS LNFLHALEVM FKSTVQLMFM
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP
ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED
IKMVYSFILR PSMFPLLTFR AIN*

Position of stopcodon in wt / mu CDS

1512 / 1512

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

504 / 504

Position of stopcodon in wt / mu cDNA

1524 / 1524

Position of start ATG in wt / mu cDNA

13 / 13

Last intron/exon boundary

1410

Theoretical NMD boundary in CDS

1347

Length of CDS

1512

Coding sequence (CDS) position

632

cDNA position

644

gDNA position

2998

Chromosomal position

142876849

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