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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DI81: Variant p.Ser73Leu

Trafficking protein particle complex subunit 2
Gene: TRAPPC2
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Variant information Variant position: help 73
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 73 (S73L, p.Ser73Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In SEDT; loss of interaction with ENO1, PITX1 and SF1.
Other resources: help


Sequence information Variant position: help 73
Protein sequence length: help 140
Location on the sequence: help MWLSNNMYLKTVDKFNEWFV S AFVTAGHMRFIMLHDIRQED
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 140 Trafficking protein particle complex subunit 2
Alternative sequence 80 – 80 H -> HILTFLVKVTN. In isoform 2.



Literature citations
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
Jeyabalan J.; Nesbit M.A.; Galvanovskis J.; Callaghan R.; Rorsman P.; Thakker R.V.;
PLoS ONE 5:E10646-E10646(2010)
Cited for: SELF-ASSOCIATION; INTERACTION WITH ENO1; PITX1 AND SF1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SEDL TYR-47; LEU-73; SER-83 AND ASP-130; The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon A.K.; Tiller G.E.; Le Merrer M.; Heuertz S.; Tranebjaerg L.; Chitayat D.; Robertson S.; Glass I.A.; Savarirayan R.; Cole W.G.; Rimoin D.L.; Kousseff B.G.; Ohashi H.; Zabel B.; Munnich A.; Gecz J.; Mulley J.C.;
Am. J. Hum. Genet. 68:1386-1397(2001)
Cited for: VARIANTS SEDT TYR-47; LEU-73 AND ASP-130;
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.