Mendelian Diseases
Multifactorial Diseases
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

SAR1B

Gene name: SAR1 homolog B
OMIM ID: 607690
Chromosome location: 5q31.1

Mutations

Disease/PhenotypeChylomicron retention disease
Reference transcriptNM_016103.3
DNA Changec.75_76delTG
A.A. ChangeL28fsX34
Exon/Intronexon3
Mutation Typedeletion
ReferenceCefalu AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, Tramuto F, Lezo A, Morra I, Cenacchi G, Barbera C, Averna MR.Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.
Metabolism. 2010 Apr;59(4):463-7.