ADSSL1

On this page, you will find information about a genetic change that was identified in a UDN participant.

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Changes in the ADSSL1 gene were identified in a male, age 34, with distal myopathy 5 (OMIM 617030) (read full description).

Date of Report

Feb 18, 2020

Full Name

adenylosuccinate synthase 1

Location

Chromosome 14 (14q32.33)

Function

ADSSL1 encodes a member of the adenylosuccinate synthase family of proteins (Lipps & Krauss, 1999). The encoded muscle-specific enzyme plays a role in the purine metabolism pathway. Mutations in this gene may cause adolescent onset distal myopathy (Park et al., 2017).

Database Links

GeneCards: ADSSL1

NCBI Gene: 122622

OMIM: 612498

UniProtKB/Swiss-Prot: Q8N142

Clinical Significance

Changes in this gene were identified in a UDN participant and other individuals with similar symptoms (OMIM 617030).

Gene ADSSL1

Inheritance Pattern Autosomal recessive

Position (hg19) chr14:g.105207568G>A

Transcript NM_199165.2

DNA Change c.910G>A

Protein Change p.Asp304Asn

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