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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BQY4: Variant p.Asp235Gly

Rhox homeobox family member 2
Gene: RHOXF2
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Variant information Variant position: help 235
Type of variant: help US
Residue change: help From Aspartate (D) to Glycine (G) at position 235 (D235G, p.Asp235Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
Variant description: help Found in infertile men; uncertain significance.
Other resources: help


Sequence information Variant position: help 235
Protein sequence length: help 288
Location on the sequence: help AAEAITAPLFISGMRDDYFW D HSHSSSLCFPMPPFPPPSLP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 288 Rhox homeobox family member 2



Literature citations
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
Borgmann J.; Tuettelmann F.; Dworniczak B.; Roepke A.; Song H.W.; Kliesch S.; Wilkinson M.F.; Laurentino S.; Gromoll J.;
Hum. Mol. Genet. 25:4898-4910(2016)
Cited for: VARIANTS ARG-68; PHE-176; ARG-227 AND GLY-235; CHARACTERIZATION OF VARIANTS ARG-68 AND ARG-227; FUNCTION; CAUTION; TISSUE SPECIFICITY;
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.