Gene: adaptor-related protein complex 4, mu 1 subunit; AP4M1


Gene Symbol: AP4M1
OMIM: 602296
Chromosome location: 7q22.1

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Spastic paraplegia 50, autosomal recessive || c.1137+1G>T

Phenotype:    Spastic paraplegia 50, autosomal recessive
Dna Change:    c.1137+1G>T
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 14
Transcript:    NM_004722.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA2 patients /1 familyNALangouët M et al., 2015Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, . Contiguous mutation syndrome in the era of high-throughput sequencing.. Mol Genet Genomic Med. 2015; 3(3):215-20
MoroccoNANA2 patients /1 familyNALangouët M et al., 2015Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, . Contiguous mutation syndrome in the era of high-throughput sequencing.. Mol Genet Genomic Med. 2015; 3(3):215-20

References

Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, Contiguous mutation syndrome in the era of high-throughput sequencing.Mol Genet Genomic Med. 2015; 3(3):215-20