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Variant position: 469The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 669The 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.
Xenopus laevis FNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLF
Xenopus tropicalis YNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLF
Slime mold LNLSKLRDAHLHTNCLAILANLSSNISHIHPYVANRLVKLL
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.
||2 – 669
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Dimitrov A.; Paupe V.; Gueudry C.; Sibarita J.-B.; Raposo G.; Vielemeyer O.; Gilbert T.; Csaba Z.; Attie-Bitach T.; Cormier-Daire V.; Gressens P.; Rustin P.; Perez F.; El Ghouzzi V.;
Hum. Mol. Genet. 18:440-453(2009)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; MYRISTOYLATION AT GLY-2; MUTAGENESIS OF GLY-2; CHARACTERIZATION OF VARIANT SMC1 LYS-87; CHARACTERIZATION OF VARIANT DMC TYR-469;
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Cohn D.H.; Ehtesham N.; Krakow D.; Unger S.; Shanske A.; Reinker K.; Powell B.R.; Rimoin D.L.;
Am. J. Hum. Genet. 72:419-428(2003)
Cited for: VARIANT DMC TYR-469; VARIANT SMC1 LYS-87;
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.