Sequence information
Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 615 The length of the canonical sequence.
Location on the sequence:
SASHQADIKEARREVEVKLT
P LILKPFGNSISRYNGEPEHI
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 SASHQADIK-----EARREV-EVKLTP LILK----PFGNSISRYNGEPE------------HI
Mouse SASHEGDVKEKKEKEMRREILQVKLTP LVLK----PFGNSV
Rat SASYQADAK---EKEMRREILQVKLTP LVLK----PFANSV
Chicken SHSREH------KEDKKKIIQETSLAP PK------PSENNT
Drosophila SLPIKAAIK---ARTPIPEVSEVS-SP IRLSTSNLPMTLTT
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 – 615
Delta(14)-sterol reductase LBR
Topological domain
1 – 211
Nuclear
Modified residue
99 – 99
Phosphoserine
Modified residue
118 – 118
Phosphothreonine
Modified residue
128 – 128
Phosphoserine
Literature citations
Lamin B-receptor mutations in Pelger-Huet anomaly.
Best S.; Salvati F.; Kallo J.; Garner C.; Height S.; Thein S.L.; Rees D.C.;
Br. J. Haematol. 123:542-544(2003)
Cited for: VARIANTS PHA LEU-119 AND ARG-569;
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.