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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08100: Variant p.Gly51Ala

Rhodopsin
Gene: RHO
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Variant information Variant position: help 51
Type of variant: help LB/B
Residue change: help From Glycine (G) to Alanine (A) at position 51 (G51A, p.Gly51Ala).
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 51
Protein sequence length: help 348
Location on the sequence: help LAEPWQFSMLAAYMFLLIVL G FPINFLTLYVTVQHKKLRTP
Residue conservation: help 
Human                         LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

                              LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Mouse                         LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Rat                           LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Pig                           LAEPWQFSMLAAYMFMLIVLGFPINFLTLYVTVQHKKLRTP

Bovine                        LAEPWQFSMLAAYMFLLIMLGFPINFLTLYVTVQHKKLRTP

Rabbit                        LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Sheep                         LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Cat                           LAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTP

Chicken                       LAEPWKFSALAAYMFMLILLGFPVNFLTLYVTIQHKKLRTP

Xenopus laevis                LAEPWQYSALAAYMFLLILLGLPINFMTLFVTIQHKKLRTP

Zebrafish                     LVAPWAYGLLAAYMFFLIITGFPVNFLTLYVTIEHKKLRTP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 348 Rhodopsin
Transmembrane 37 – 61 Helical; Name=1
Helix 35 – 64



Literature citations
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
Macke J.P.; Davenport C.M.; Jacobson S.G.; Hennessey J.C.; Gonzalez-Fernandez F.; Conway B.P.; Heckenlively J.; Palmer R.; Maumenee I.H.; Sieving P.; Gouras P.; Good W.; Nathans J.;
Am. J. Hum. Genet. 53:80-89(1993)
Cited for: VARIANTS RP4 ARG-106; GLY-135; SER-140; GLU-188 AND ARG-211; VARIANTS ALA-51; ILE-104 AND MET-209;
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.