Variant position: 735 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 758 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KVLIFDDSFEHEVWQDASSF RLIFIVDVWHPELTPQQRRSL
Mouse KVLIFDDSFEHEVWQDASSF RLIFIVDVWHPELTPQQRRSL
Bovine KVLIFDDSFEHEVWQDAASF RLIFIVDVWHPELTPHQRRSL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 758 Aspartyl/asparaginyl beta-hydroxylase
75 – 758 Lumenal
725 – 725 Iron
735 – 735 2-oxoglutarate
189 – 758 Missing. In isoform 7.
240 – 758 Missing. In isoform 3 and isoform 4.
314 – 758 Missing. In isoform 2, isoform 5, isoform 6, isoform 8, isoform 9 and isoform 11.
735 – 743
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N.; Khan A.O.; Mansour A.; Mohamed J.Y.; Al-Assiri A.; Haddad R.; Jia X.; Xiong Y.; Megarbane A.; Traboulsi E.I.; Alkuraya F.S.;
Am. J. Hum. Genet. 94:755-759(2014)
Cited for: INVOLVEMENT IN FDLAB; VARIANT FDLAB TRP-735;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.