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UniProtKB/Swiss-Prot Q9BXC9: Variant p.Ala122Val

BBSome complex member BBS2
Gene: BBS2
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Variant information Variant position: help 122
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 122 (A122V, p.Ala122Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 122
Protein sequence length: help 721
Location on the sequence: help AYDVYNNSDLFYREVADGAN A IVLGTLGDISSPLAIIGGNC
Residue conservation: help 
Human                         AYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNC

Mouse                         AYDIYNNSDLFYREVSDGANAIVLGTLGDIAPPLAIIGGNC

Rat                           AYDIYNNSDLFYREVADGANALVLGTLGDIAPPLAIIGGNC

Zebrafish                     AYDVHDNTDVFYKEVTDGANAIVLGKLGDIQSPLAIIGGNC

Caenorhabditis elegans        CYDVHNNLTVFRNDVPDGVSCFVYGKLGELDEAI-YCGGNC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 721 BBSome complex member BBS2



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASN-70 AND VAL-122;
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.