Variant position: 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 915 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 NLFFPVGFVVAERVLYVPSM GFCILVAHGWQKISTKSVF--KK
Mouse NLFFPVGFVVAERVLYVPSM GFCILVAHGWQKISNKSVL--
Drosophila NLFFPVGFVVAERILYMPSM GYCLLVAYGFEQLQRRGSLSW
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 – 915 Protein O-mannosyl-transferase TMTC3
377 – 397 Helical
Biallelic mutations in TMTC3, encoding a transmembrane and TPR-containing protein, lead to cobblestone lissencephaly.
Jerber J.; Zaki M.S.; Al-Aama J.Y.; Rosti R.O.; Ben-Omran T.; Dikoglu E.; Silhavy J.L.; Caglar C.; Musaev D.; Albrecht B.; Campbell K.P.; Willer T.; Almuriekhi M.; Caglayan A.O.; Vajsar J.; Bilguevar K.; Ogur G.; Abou Jamra R.; Guenel M.; Gleeson J.G.;
Am. J. Hum. Genet. 99:1181-1189(2016)
Cited for: INVOLVEMENT IN LIS8; VARIANTS LIS8 ASP-67 AND GLU-384;
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.