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

SPG11

Gene name: spastic paraplegia 11
OMIM ID: 610844
Chromosome location: 15q13-15

Mutations

Disease/PhenotypeSpastic paraplegia 11, autosomal recessive
Reference transcriptNM_025137.3
DNA Changec.6100C>T
A.A. Changep.Arg2034X
Exon/Intronexon 32
Mutation Typesubstitution
ReferenceDenora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, et al,Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Hum Mutat. 2009 Mar;30(3):E500-19.