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Last update

21/6/2017

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

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

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	2 patients /1 family	NA	Langouët 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
Morocco	NA	NA	2 patients /1 family	NA	Langouët 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

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

References