Sequence information
Variant position: 137 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:
SLMTDETIANVPILILGNKI
D RPEAISEERLREMFGLYGQT
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 SLMTDETIANVPILILGNKID RPEAISEERLREMFGLYGQT
Mouse SLMTDETIANVPILILGNKID RPEAISEERLREMFGLYGQT
Rat SLMTDETIANVPILILGNKID RPEAISEERLREMFGLYGQT
Pig SLMTDETVANVPILILGNKID RPEAISEERLREMFGLYGQT
Bovine SLMTDETVANVPILILGNKID RPEAISEERLREMFGLYGQT
Slime mold DILGDEHLSQSPLLILGSKCD AKGHHNRENLIDLLDI----
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
Chain
1 – 198
GTP-binding protein SAR1b
Nucleotide binding
134 – 137
GTP
Literature citations
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;
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.