Variant position: 656 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 828 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 SQTQASETLAVRGFSVIGWY HSHPAFDPNPSLRDIDTQAKY
Mouse SQTQASETLALRGYSVIGWY HSHPAFDPNPSLRDIDTQAKY
Chicken SQTQASETLAARGYSVIGWY HSHPAFDPNPSIRDIDTQAKY
Xenopus laevis SQTQASEALASRGYSVIGWY HSHPAFDPNPSIRDIDTQAKY
Zebrafish SQTQASEVLGVKGLSVVGWY HSHPAFDPNPSLRDIDTQAKY
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.
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
Le Guen T.; Touzot F.; Andre-Schmutz I.; Lagresle-Peyrou C.; France B.; Kermasson L.; Lambert N.; Picard C.; Nitschke P.; Carpentier W.; Bole-Feysot C.; Lim A.; Cavazzana M.; Callebaut I.; Soulier J.; Jabado N.; Fischer A.; de Villartay J.P.; Revy P.;
J. Allergy Clin. Immunol. 136:1619-1626(2015)
Cited for: FUNCTION; INVOLVEMENT IN BMFS4; VARIANT BMFS4 ARG-656;
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