RGD:405734816 Rat Genome Database

RGD:405734816 Rat Genome Database

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Variant: RGD:405734816 - Homo sapiens

RGD ID:

405734816

ClinVar ID:

CV3322845

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SOD2

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	160,106,044
GRCh38	6	159,685,012

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001322817.2:c.227A>T NM_001322819.2:c.227A>T NM_001322820.2:c.227A>T NM_001024466.3:c.248A>T More...	03/12/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SOD2
Accession:	NM_000636
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTA QIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIIRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQ IAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001322817
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIIRDFG SFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWN VINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001024466
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	83

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLE AIIRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPD YLKAIWNVINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001024465
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTA QIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIIRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQ IAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001322819
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIIRDFG SFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWN VINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001322814
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	83

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLE AIIRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPD YLKAIWNVINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001322820
Location:	EXON
Amino Acid Prediction:	K to I (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIIRDFG SFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWN VINWENVTERYMACKK*

Gene Symbol:	SOD2
Accession:	NM_001322815
Location:	INTRON

Gene Symbol:	SOD2
Accession:	NM_001322816
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004464807	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SOD2	CLINVAR
OMIM	147460	CLINVAR