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: ENST00000435122
Querying Taster for transcript #2: ENST00000644719
MT speed 0.24 s - this script 2.678851 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000644719(MANE Select)	CYP21A2	Deleterious	79\|21	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 988330 (pathogenic) Protein features (might be) affected
ENST00000435122	CYP21A2	Deleterious	82\|18	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 988330 (pathogenic) Protein features (might be) affected

MutationT@ster 2025

Variant:

6:32038514C>A_2_ENST00000644719

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 988330 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr6:32038514C>A (GRCh38)

Gene symbol

CYP21A2

Gene constraints

LOEUF: 0.91, LOF (oe): 0.65, misssense (oe): 0.76, synonymous (oe): 0.71 ? (gnomAD)

Ensembl transcript ID

ENST00000644719.2

Genbank transcript ID

NM_000500 (exact from MANE)

UniProt / AlphaMissense peptide

CP21A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.92C>A
g.188C>A

AA changes

AAE:	P31Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		31	W	N	W	W	K	L	R	S	L	H	L	P	P	L	A	P	G	F	L	H	L	L	Q	P
mutated	not conserved	31	W	N	W	W	K	L	R	S	L	H	L	Q	P	L	A	P	G	F	L	H	L	L	Q
Ptroglodytes	all identical	728	W	N	W	W	K	L	R	S	L	H	L	P	P	L	A	P	G	F	L	H	L	L	Q
Mmulatta	no alignment	n/a
Fcatus	all identical	31	W	N	K	W	K	Y	R	S	L	H	L	P	P	L	A	P	G	F	L	H	L	L	Q
Mmusculus	all identical	31	W	G	Q	W	K	L	R	K	L	H	L	P	P	L	A	P	G	F	L	H	F	L	Q
Ggallus	not conserved	30	W	G	G	S	A	R	R	G	G	-	-	-	-	-	A	PWG	G	A	L	H	L	L	H
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	495	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.56	0.875
	2.341	0.834
(flanking)	-4.615	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

6

Strand

1

Original gDNA sequence snippet

GCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCT

Altered gDNA sequence snippet

GCTCCGGAGCCTCCACCTCCAGCCTCTTGCCCCGGGCTTCT

Original cDNA sequence snippet

GCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCT

Altered cDNA sequence snippet

GCTCCGGAGCCTCCACCTCCAGCCTCTTGCCCCGGGCTTCT

Wildtype AA sequence

MLLLGLLLLL PLLAGARLLW NWWKLRSLHL PPLAPGFLHL LQPDLPIYLL GLTQKFGPIY
RLHLGLQDVV VLNSKRTIEE AMVKKWADFA GRPEPLTYKL VSRNYPDLSL GDYSLLWKAH
KKLTRSALLL GIRDSMEPVV EQLTQEFCER MRAQPGTPVA IEEEFSLLTC SIICYLTFGD
KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM
QLRQHKESLV AGQWRDMMDY MLQGVAQPSM EEGSGQLLEG HVHMAAVDLL IGGTETTANT
LSWAVVFLLH HPEIQQRLQE ELDHELGPGA SSSRVPYKDR ARLPLLNATI AEVLRLRPVV
PLALPHRTTR PSSISGYDIP EGTVIIPNLQ GAHLDETVWE RPHEFWPDRF LEPGKNSRAL
AFGCGARVCL GEPLARLELF VVLTRLLQAF TLLPSGDALP SLQPLPHCSV ILKMQPFQVR
LQPRGMGAHS PGQSQ*

Mutated AA sequence

MLLLGLLLLL PLLAGARLLW NWWKLRSLHL QPLAPGFLHL LQPDLPIYLL GLTQKFGPIY
RLHLGLQDVV VLNSKRTIEE AMVKKWADFA GRPEPLTYKL VSRNYPDLSL GDYSLLWKAH
KKLTRSALLL GIRDSMEPVV EQLTQEFCER MRAQPGTPVA IEEEFSLLTC SIICYLTFGD
KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM
QLRQHKESLV AGQWRDMMDY MLQGVAQPSM EEGSGQLLEG HVHMAAVDLL IGGTETTANT
LSWAVVFLLH HPEIQQRLQE ELDHELGPGA SSSRVPYKDR ARLPLLNATI AEVLRLRPVV
PLALPHRTTR PSSISGYDIP EGTVIIPNLQ GAHLDETVWE RPHEFWPDRF LEPGKNSRAL
AFGCGARVCL GEPLARLELF VVLTRLLQAF TLLPSGDALP SLQPLPHCSV ILKMQPFQVR
LQPRGMGAHS PGQSQ*

Position of stopcodon in wt / mu CDS

1488 / 1488

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

496 / 496

Position of stopcodon in wt / mu cDNA

1496 / 1496

Position of start ATG in wt / mu cDNA

9 / 9

Last intron/exon boundary

1230

Theoretical NMD boundary in CDS

1171

Length of CDS

1488

Coding sequence (CDS) position

92

cDNA position

100

gDNA position

188

Chromosomal position

32038514

Speed

0.11 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:

6:32038514C>A_1_ENST00000435122

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 988330 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 82|18 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr6:32038514C>A (GRCh38)

Gene symbol

CYP21A2

Gene constraints

LOEUF: 0.89, LOF (oe): 0.62, misssense (oe): 0.77, synonymous (oe): 0.71 ? (gnomAD)

Ensembl transcript ID

ENST00000435122.3

Genbank transcript ID

NM_001368143 (by similarity), NM_001368144 (by similarity), NM_001128590 (by similarity)

UniProt / AlphaMissense peptide

CP21A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.92C>A
g.188C>A

AA changes

AAE:	P31Q	?
Score:	76

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		31	W	N	W	W	K	L	R	S	L	H	L	P	P	L	A	P	G	F	L	H	L	L	Q	P
mutated	not conserved	31	W	N	W	W	K	L	R	S	L	H	L	Q	P	L	A	P	G	F	L	H	L	L	Q
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	495	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.56	0.875
	2.341	0.834
(flanking)	-4.615	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

6

Strand

1

Original gDNA sequence snippet

GCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCT

Altered gDNA sequence snippet

GCTCCGGAGCCTCCACCTCCAGCCTCTTGCCCCGGGCTTCT

Original cDNA sequence snippet

GCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCT

Altered cDNA sequence snippet

GCTCCGGAGCCTCCACCTCCAGCCTCTTGCCCCGGGCTTCT

Wildtype AA sequence

MLLLGLLLLL PLLAGARLLW NWWKLRSLHL PPLAPGFLHL LQPDLPIYLL GLTQKFGPIY
RLHLGLQDKL VSRNYPDLSL GDYSLLWKAH KKLTRSALLL GIRDSMEPVV EQLTQEFCER
MRAQPGTPVA IEEEFSLLTC SIICYLTFGD KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV
DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM QLRQHKESLV AGQWRDMMDY MLQGVAQPSM
EEGSGQLLEG HVHMAAVDLL IGGTETTANT LSWAVVFLLH HPEIQQRLQE ELDHELGPGA
SSSRVPYKDR ARLPLLNATI AEVLRLRPVV PLALPHRTTR PSSISGYDIP EGTVIIPNLQ
GAHLDETVWE RPHEFWPDRF LEPGKNSRAL AFGCGARVCL GEPLARLELF VVLTRLLQAF
TLLPSGDALP SLQPLPHCSV ILKMQPFQVR LQPRGMGAHS PGQSQ*

Mutated AA sequence

MLLLGLLLLL PLLAGARLLW NWWKLRSLHL QPLAPGFLHL LQPDLPIYLL GLTQKFGPIY
RLHLGLQDKL VSRNYPDLSL GDYSLLWKAH KKLTRSALLL GIRDSMEPVV EQLTQEFCER
MRAQPGTPVA IEEEFSLLTC SIICYLTFGD KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV
DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM QLRQHKESLV AGQWRDMMDY MLQGVAQPSM
EEGSGQLLEG HVHMAAVDLL IGGTETTANT LSWAVVFLLH HPEIQQRLQE ELDHELGPGA
SSSRVPYKDR ARLPLLNATI AEVLRLRPVV PLALPHRTTR PSSISGYDIP EGTVIIPNLQ
GAHLDETVWE RPHEFWPDRF LEPGKNSRAL AFGCGARVCL GEPLARLELF VVLTRLLQAF
TLLPSGDALP SLQPLPHCSV ILKMQPFQVR LQPRGMGAHS PGQSQ*

Position of stopcodon in wt / mu CDS

1398 / 1398

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

466 / 466

Position of stopcodon in wt / mu cDNA

1406 / 1406

Position of start ATG in wt / mu cDNA

9 / 9

Last intron/exon boundary

1140

Theoretical NMD boundary in CDS

1081

Length of CDS

1398

Coding sequence (CDS) position

92

cDNA position

100

gDNA position

188

Chromosomal position

32038514

Speed

0.13 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