Sequence information
Variant position: 143 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1848 The length of the canonical sequence.
Location on the sequence:
VIYTYSGQNMGDMDPHIFAV
A EEAYKQMARDEKNQSIIVSG
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 VIYTYSGQNMGDMDPHIFAVA EEAYKQMARDEKNQSIIVSG
Mouse VIYAYSGQNMGDMDPHIFAVA EEAYKQMARDEKNQSIIVSG
Rat VIYAYSGQNMGDMDPHIFAVA EEAYKQMARDEKNQSIIVSG
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
Chain
1 – 1848
Unconventional myosin-Vb
Domain
69 – 761
Myosin motor
Alternative sequence
1 – 1430
Missing. In isoform 3.
Alternative sequence
1 – 859
Missing. In isoform 2.
Literature citations
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele F.M.; Muller T.; Schiefermeier N.; Ebner H.L.; Lechner S.; Pfaller K.; Thoni C.E.; Goulet O.; Lacaille F.; Schmitz J.; Colomb V.; Sauvat F.; Revillon Y.; Canioni D.; Brousse N.; de Saint-Basile G.; Lefebvre J.; Heinz-Erian P.; Enninger A.; Utermann G.; Hess M.W.; Janecke A.R.; Huber L.A.;
Hum. Mutat. 31:544-551(2010)
Cited for: VARIANTS DIAR2 GLU-143; ARG-168; HIS-401; ARG-435 AND ARG-1556;
Disclaimer:
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.