Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SPG7

Gene name: spastic paraplegia 7 (pure and complicated autosomal recessive)
OMIM ID: 602783
Chromosome location: 16q24.3

Mutations

Disease/PhenotypeSpastic paraplegia 7, autosomal recessive
Reference transcriptNM_003119.2
DNA Changec.1742_1744delTGG
A.A. Changep.Val581del
Exon/Intronexon 13
Mutation Typedeletion
ReferenceElleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology. 2006 Mar 14;66(5):654-9.

Disease/PhenotypeSpastic paraplegia 7, autosomal recessive
Reference transcriptNM_003119.2
DNA Changec.850_851delTTinsC
A.A. ChangeFrameshift and premature protein truncation
Exon/Intronexon 6
Mutation Typeinsertion
ReferenceElleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology. 2006 Mar 14;66(5):654-9.