MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000291554
MT speed 0.04 s - this script 2.487128 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
ENST00000291554(MANE Select)	CRYAA	Deleterious	100\|0	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

21:43169134G>A_1_ENST00000291554

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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

Chr21:43169134G>A (GRCh38)

Gene symbol

CRYAA

Gene constraints

no data

Ensembl transcript ID

ENST00000291554.6

Genbank transcript ID

NM_000394 (exact from MANE)

UniProt / AlphaMissense peptide

CRYAA_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.35G>A
g.127G>A

AA changes

AAE:	R12H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs776884812
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	3	5	8

Protein conservation

Species	Match	AA	Alignment
Human		12	M	D	V	T	I	Q	H	P	W	F	K	R	T	L	G	P	F	Y	P	S	R	L	F	D
mutated	not conserved	12	M	D	V	T	I	Q	H	P	W	F	K	H	T	L	G	P	F	Y	P	S	R	L	F
Ptroglodytes	all identical	12	M	D	V	T	I	Q	H	P	W	F	K	R	T	L	G	P	F	Y	P	S	R	L	F
Mmulatta	all identical	12	M	D	V	T	I	Q	H	P	W	F	K	R	T	L	G	P	F	Y	P	S	R	L	F
Fcatus	all identical	12	M	D	I	A	I	Q	H	P	W	F	K	R	A	L	G	P	F	Y	P	S	R	L	F
Mmusculus	all identical	12	M	D	V	T	I	Q	H	P	W	F	K	R	A	L	G	P	F	Y	P	S	R	L	F
Ggallus	all identical	118	M	D	I	T	I	Q	H	P	W	F	K	R	A	L	G	P	L	I	P	S	R	L	F
Trubripes	all identical	12	M	D	I	A	I	Q	H	P	W	F	R	R	A	L	G	S	A	Y	P	T	R	L	F
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	63	REGION	Required for complex formation with BFSP1 and BFSP2; during homooligomerization, mediates the association of 2 dimers to form a tetramer	lost
1	162	CHAIN		lost
1	168	CHAIN		lost
1	172	CHAIN		lost
1	173	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.489	1
	9.07	1
(flanking)	-4.169	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

21

Strand

1

Original gDNA sequence snippet

CCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACC

Altered gDNA sequence snippet

CCAGCACCCCTGGTTCAAGCACACCCTGGGGCCCTTCTACC

Original cDNA sequence snippet

CCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACC

Altered cDNA sequence snippet

CCAGCACCCCTGGTTCAAGCACACCCTGGGGCCCTTCTACC

Wildtype AA sequence

MDVTIQHPWF KRTLGPFYPS RLFDQFFGEG LFEYDLLPFL SSTISPYYRQ SLFRTVLDSG
ISEVRSDRDK FVIFLDVKHF SPEDLTVKVQ DDFVEIHGKH NERQDDHGYI SREFHRRYRL
PSNVDQSALS CSLSADGMLT FCGPKIQTGL DATHAERAIP VSREEKPTSA PSS*

Mutated AA sequence

MDVTIQHPWF KHTLGPFYPS RLFDQFFGEG LFEYDLLPFL SSTISPYYRQ SLFRTVLDSG
ISEVRSDRDK FVIFLDVKHF SPEDLTVKVQ DDFVEIHGKH NERQDDHGYI SREFHRRYRL
PSNVDQSALS CSLSADGMLT FCGPKIQTGL DATHAERAIP VSREEKPTSA PSS*

Position of stopcodon in wt / mu CDS

522 / 522

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

174 / 174

Position of stopcodon in wt / mu cDNA

614 / 614

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

404

Theoretical NMD boundary in CDS

261

Length of CDS

522

Coding sequence (CDS) position

35

cDNA position

127

gDNA position

127

Chromosomal position

43169134

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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