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UniProtKB/Swiss-Prot Q7Z6M1: Variant p.His73Tyr

Rab9 effector protein with kelch motifs
Gene: RABEPK
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Variant information Variant position: help 73
Type of variant: help LB/B
Residue change: help From Histidine (H) to Tyrosine (Y) at position 73 (H73Y, p.His73Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 73
Protein sequence length: help 372
Location on the sequence: help VGGANPNRSFSDVHTMDLGK H QWDLDTCKGLLPRYEHASFI
Residue conservation: help 
Human                         VGGANPNRSFSDVHTMDLGKHQWDLDTCKGLLPRYEHASFI

Mouse                         VGGANPNQSFSDVHTMDLGTHQWDTATREGLLPRYEHASFL

Rat                           VGGANPNQSFSDVHTMDLGTHRWDTATREGLLPRYEHASFL

Bovine                        VGGADPNRSFSDVHTIDLGTHQWDLATSEGLLPRYEHTSFI

Chicken                       LGGADPAGAFADAHFVELGAHLWAPAAWSGLRPRYEHATFL

Xenopus laevis                LGGADPSGCYSDTHIIDLDNHEWDNPDSEGLLPRYEHASFI

Zebrafish                     VGGANPSGSFADSYIINLDTHQWDLPDWEGLQARYEHCSFT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 372 Rab9 effector protein with kelch motifs
Repeat 49 – 95 Kelch 1
Alternative sequence 71 – 121 Missing. In isoform 2.



Literature citations
Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Halleck A.; Ebert L.; Mkoundinya M.; Schick M.; Eisenstein S.; Neubert P.; Kstrang K.; Schatten R.; Shen B.; Henze S.; Mar W.; Korn B.; Zuo D.; Hu Y.; LaBaer J.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT TYR-73; 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] (ISOFORMS 1 AND 2); VARIANTS GLY-60; TYR-73 AND GLY-313;
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.