Submit or Track your Manuscript LOG-IN

Identification and In Silico Analysis of a Novel Mutation of MAN2B1 Gene in Congenital Family with Alpha-Mannosidosis from Pakistan

Identification and In Silico Analysis of a Novel Mutation of MAN2B1 Gene in Congenital Family with Alpha-Mannosidosis from Pakistan

Muhammad Ikram Ullah

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka, 75471, Saudi Arabia

 
* Corresponding author: mikramullah@ju.edu.sa

Fig. 1.

SNP homozygosity mapping of alpha-mannosidosis family. The image is demonstrating three shared homozygous regions (red bars) which is a homozygosity by descent (HBD) on chromosome 16 and 19.

Fig. 2.

Alpha-mannosidosis family pedigree presenting the homozygous region in affected individuals (III:3, III:4, IV:4 and IV:5). Representation of multi-generation pedigree of alpha-mannosidosis phenotype showing the autosomal pattern of the probands and siblings. Pakistani pedigree with alpha-mannosidosis, presented with pictorial genotypes which cover a nucleotide region of 9.4 Mb at chromosome 19 encompassing the disease locus (dashed blue boxed region).

Fig. 3.

DNA sequencing shows mutation in alpha-mannosidosis family. Electropherograms of sequencing represents (a) affected individuals (III:3, III:4, IV:4 and IV:5) were displayed to be homozygous for the MAN2B1variant c.2710A>T; p.904Thr>Ser (indicated), (b) heterozygous parents for MAN2B1 variant c.2710A>T; p.904Thr>Ser, while and (c) unaffected sibling were wild-type. 

Fig. 4.

The characterization of MAN2B1 protein for MAN2B1 mutation. In wild-type protein sequence, the amino acid Thr 904 established a hydrogen bond to amino acid Arg 916 residue in the same vicinity (a) while, the mutant sequence has loss the hydrogen bonding (b).

Pakistan Journal of Zoology

February

Vol. 55, Iss. 1, Pages 1-500

Featuring

Click here for more

Subscribe Today

Receive free updates on new articles, opportunities and benefits


Subscribe Unsubscribe