Variant position: 37 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 198 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QFLGLYKKTGKLVFLGLDNA GKTTLLHMLKDDRLGQHVPTL
Mouse QFLGLYKKSGKLVFLGLDNA GKTTLLHMLKDDRLGQHVPTL
Rat QFLGLYKKTGKLVFLGLDNA GKTTLLHMLKDDRLGQHVPTL
Pig QFLGLYKKTGKLVFLGLDNA GKTTLLHMLKDDRLGQHVPTL
Bovine QFLGLYKKTGKLVFLGLDNA GKTTLLHMLKDDRLGQHVPTL
Slime mold LWLGFFKKEAKIVIIGLGNA GKTTLLHLLVTGSLKSHIPTL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 198 GTP-binding protein SAR1b
32 – 39 GTP
34 – 34 Magnesium
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Jones B.; Jones E.L.; Bonney S.A.; Patel H.N.; Mensenkamp A.R.; Eichenbaum-Voline S.; Rudling M.; Myrdal U.; Annesi G.; Naik S.; Meadows N.; Quattrone A.; Islam S.A.; Naoumova R.P.; Angelin B.; Infante R.; Levy E.; Roy C.C.; Freemont P.S.; Scott J.; Shoulders C.C.;
Nat. Genet. 34:29-31(2003)
Cited for: VARIANTS CMRD ARG-37; ASN-137 AND ARG-179;
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.