Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UH77: Variant p.His498Tyr

Kelch-like protein 3
Gene: KLHL3
Feedback?
Variant information Variant position: help 498
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Tyrosine (Y) at position 498 (H498Y, p.His498Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Variant description: help In PHA2D.


Sequence information Variant position: help 498
Protein sequence length: help 587
Location on the sequence: help TRRSGAGVGVLSGQLYATGG H DGPLVRKSVEVYDPGTNTWK
Residue conservation: help 
Human                         TRRSGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWK

Mouse                         TRRSGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWK

Rat                           TRRSGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWK

Bovine                        TRRSGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWK

Zebrafish                     TRRSGAGVGVLSGQLYAAGGHDGPLVRKSVEVYDPTTNTWR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 587 Kelch-like protein 3
Repeat 491 – 537 Kelch 5



Literature citations
A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.
Kelly D.; Rodzlan M.R.; Jeunemaitre X.; Wall C.;
QJM 109:487-488(2016)
Cited for: VARIANT PHA2D TYR-498;
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.