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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5HYA8: Variant p.Leu739Arg

Meckelin
Gene: TMEM67
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Variant information Variant position: help 739
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Arginine (R) at position 739 (L739R, p.Leu739Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score: help -2
Variant description: help Found in Joubert syndrome-related disorder; likely pathogenic.


Sequence information Variant position: help 739
Protein sequence length: help 995
Location on the sequence: help NPPSYIAPYSCILRYAVSAA L WLAIGIIQVVFFAVFYERFI
Residue conservation: help 
Human                         NPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFI

Mouse                         NPSDYTAPYSRILRYAVATAIWLVIGIIQVVFFAAFYERFI

Rat                           SLSDYAAPYSRILRYAVATTIWLVIGIVQVVFFAAFYERFI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 37 – 995 Meckelin
Transmembrane 732 – 771 Discontinuously helical; Name=5
Intramembrane 732 – 757 Helical; Name=5A
Helix 732 – 757



Literature citations
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M.; Brancati F.; Mougou-Zerelli S.; Mazzotta A.; Thomas S.; Elkhartoufi N.; Travaglini L.; Gomes C.; Ardissino G.L.; Bertini E.; Boltshauser E.; Castorina P.; D'Arrigo S.; Fischetto R.; Leroy B.; Loget P.; Bonniere M.; Starck L.; Tantau J.; Gentilin B.; Majore S.; Swistun D.; Flori E.; Lalatta F.; Pantaleoni C.; Penzien J.; Grammatico P.; Dallapiccola B.; Gleeson J.G.; Attie-Bitach T.; Valente E.M.;
Hum. Mutat. 31:E1319-E1331(2010)
Cited for: VARIANTS LYS-90; LYS-124; GLU-301; ASP-569; VAL-616 AND ARG-739; VARIANTS MKS3 SER-349; LEU-441; ARG-668; GLU-786 AND CYS-843;
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.