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UniProtKB/Swiss-Prot Q8WXF7: Variant p.Ala161Pro

Atlastin-1
Gene: ATL1
Variant information

Variant position:  161
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Proline (P) at position 161 (A161P, p.Ala161Pro).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In SPG3; affects endoplasmic reticulum and Golgi morphology.
Any additional useful information about the variant.



Sequence information

Variant position:  161
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  558
The length of the canonical sequence.

Location on the sequence:   AVLLMDTQGTFDSQSTLRDS  A TVFALSTMISSIQVYNLSQN
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                         AVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQN

Mouse                         AVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQN

Rat                           AVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQN

Bovine                        AVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQN

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.

TypePositionsDescription
Chain 1 – 558 Atlastin-1
Topological domain 1 – 449 Cytoplasmic
Domain 64 – 309 GB1/RHD3-type G
Mutagenesis 151 – 151 F -> S. Affects endoplasmic reticulum and Golgi morphology.
Mutagenesis 162 – 162 T -> P. Affects endoplasmic reticulum and Golgi morphology.
Helix 157 – 170


Literature citations

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M.; Muriel M.-P.; Janer A.; Latouche M.; Dauphin A.; Debeir T.; Martin E.; Duyckaerts C.; Prigent A.; Depienne C.; Sittler A.; Brice A.; Ruberg M.;
Mol. Cell. Neurosci. 35:1-13(2007)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG3 PRO-161; CYS-239 AND TRP-495; MUTAGENESIS OF PHE-151; THR-162 AND SER-398; INTERACTION WITH TMED2; TISSUE SPECIFICITY;

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter S.M.; Engel W.; Neumann L.M.; Kunze J.; Neesen J.;
Hum. Mutat. 23:98-98(2004)
Cited for: VARIANTS SPG3 PRO-161 AND PRO-247;

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.