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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03112: Variant p.Pro120Ser

Histone-lysine N-methyltransferase MECOM
Gene: MECOM
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Variant information Variant position: help 120
Type of variant: help LB/B
Residue change: help From Proline (P) to Serine (S) at position 120 (P120S, p.Pro120Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 120
Protein sequence length: help 1230
Location on the sequence: help IEVGEKFGPYVGEQRSNLKD P SYGWEILDEFYNVKFCIDAS
Residue conservation: help
Human                         IEVGEKFGPYVGEQRSNLKDPSYGWEILDEFYNVKFCIDAS

Mouse                         IEIGEKFGPYMGEQRSDLKDSSYGWEILDEFCNVKFCIDAS

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1230 Histone-lysine N-methyltransferase MECOM
Domain 78 – 190 SET
Alternative sequence 1 – 188 Missing. In isoform 1, isoform 5 and isoform 6.
Alternative sequence 1 – 125 MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKEGSPYKAPIYIPDDIPIPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDPSYGWE -> M. In isoform 4.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.