RGD:8556363 Rat Genome Database

Variant: RGD:8556363 - Homo sapiens

RGD ID:

8556363

RS ID:

rs72547571

ClinVar ID:

CV16679

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ALDH3A2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	19,566,648
GRCh38	17	19,663,335

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_007095.2:g.19585C>T NC_000017.11:g.19663335C>T NC_000017.10:g.19566648C>T NP_000373.1:p.Pro315Ser More...	05/09/2022	missense\|missense variant	pathogenic\|likely pathogenic	neonatal/infancy	1-9 / 1 000 000	FADH deficiency; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia; none provided

Disease Annotations Click to see Annotation Detail View

Sjogren-Larsson syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ALDH3A2
Accession:	NM_001031806
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KKYQAVLRRKALLIFLVVHRLRWSSKQR*

Gene Symbol:	ALDH3A2
Accession:	NM_001369138
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KAEYY*

Gene Symbol:	ALDH3A2
Accession:	XM_024450651
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENI KESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFIN EREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKRE GANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKKYQAVLRRKALLIFLVVHRLRWSSKQR*

Gene Symbol:	ALDH3A2
Accession:	NM_001369137
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KKYQAVLRRKALLIFLVVHRLRWSSKQR*

Gene Symbol:	ALDH3A2
Accession:	NM_000382
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KAEYY*

Gene Symbol:	ALDH3A2
Accession:	XM_047435622
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGRILLKNDPVQPPSASTELFLF*

Gene Symbol:	ALDH3A2
Accession:	NM_001369148
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENI KESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFIN EREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKRE GANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY*

Gene Symbol:	ALDH3A2
Accession:	NM_001369136
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KKYQAVLRRKALLIFLVVHRLRWSSKQR*

Gene Symbol:	ALDH3A2
Accession:	NM_001369139
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV KAEYY*

Gene Symbol:	ALDH3A2
Accession:	NM_001369146
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVT AKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIASTVLTD VDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFG GVGRILLKNDPVQPPSASTELFLF*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9204959	PMID:9254849	PMID:9467812	PMID:10384396	PMID:10577908	PMID:11408337	PMID:19124283	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000001707	CLINVAR
	RCV000255529	CLINVAR
dbSNP (RS)	rs72547571	CLINVAR
MedGen	C0037231	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ALDH3A2	CLINVAR
OMIM	270200	CLINVAR
	609523	CLINVAR
OMIM Allele	609523.0005	CLINVAR
SNOMED CT	111303009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8556363 - Homo sapiens

Imported Disease Annotations - ClinVar