ClinVar

NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)

Gene:

ARSA:arylsulfatase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50625639 (on Assembly GRCh38)
• Chr22: 51064067 (on Assembly GRCh37)

Preferred name:

NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)

Other names:

E382K

HGVS:

• NC_000022.11:g.50625639C>T
• NG_009260.2:g.7541G>A
• NM_000487.6:c.1150G>AMANE SELECT
• NM_001085425.3:c.1150G>A
• NM_001085426.3:c.1150G>A
• NM_001085427.3:c.1150G>A
• NM_001085428.3:c.892G>A
• NM_001362782.2:c.892G>A
• NP_000478.3:p.Glu384Lys
• NP_000478.3:p.Glu384Lys
• NP_001078894.2:p.Glu384Lys
• NP_001078895.2:p.Glu384Lys
• NP_001078896.2:p.Glu384Lys
• NP_001078897.1:p.Glu298Lys
• NP_001349711.1:p.Glu298Lys
• NC_000022.10:g.51064067C>T
• NM_000487.5:c.1150G>A

This HGVS expression did not pass validation

Protein change:

E298K; GLU382LYS

Links:

OMIM: 607574.0036; dbSNP: rs74315479

NCBI 1000 Genomes Browser:

rs74315479

Molecular consequence:

• NM_000487.6:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001085425.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001085426.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001085427.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001085428.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362782.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

• As described in PMID: 37480112, ARSA enzymatic activity >13% of wild type is taken as benign and likely does not contribute to disease.

Observations:

1