UniProtKB/Swiss-Prot P51149: Variant p.Asn161Thr

Ras-related protein Rab-7a
Gene: RAB7A
Chromosomal location: 3q22.1
Variant information

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

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Asparagine (N) to Threonine (T) at position 161 (N161T, p.Asn161Thr).
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:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 CMT2B; does not affect interaction with NTRK1; results in higher levels of NTRK1 and MAPK1/MAPK3 phosphorylation after NGF stimulation consistent with enhanced MAPK signaling.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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

Protein sequence length:  207
The length of the canonical sequence.

Location on the sequence:   AWCYSKNNIPYFETSAKEAI  N VEQAFQTIARNALKQETEVE
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                         AWCYSKNNIPYFETSAKEAINVEQAFQTIARNALKQETEVE

Mouse                         AWCYSKNNIPYFETSAKEAINVEQAFQTIARNALKQETEVE

Rat                           AWCYSKNNIPYFETSAKEAINVEQAFQTIARNALKQETEVE

Bovine                        AWCYSKNNIPYFETSAKEAINVEQAFQTIVRNALKQETEVE

Rabbit                        AWSYSKNNIPYFETSAKEAINVEQAFQTIARNALKQETEVE

Dog                           AWCYSKNNIPYFETSAKEAINVEQAFQTIARNALKQETEVE

Slime mold                    SWCQSKGNIPYFETSAKEAINVEQAFQTIARNAIKLEDGLV

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 – 207 Ras-related protein Rab-7a
Mutagenesis 180 – 180 V -> A. Abolishes interaction with RILP and localization to late endosomal/lysosomal compartments.


Literature citations

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Houlden H.; King R.H.M.; Muddle J.R.; Warner T.T.; Reilly M.M.; Orrell R.W.; Ginsberg L.;
Ann. Neurol. 56:586-590(2004)
Cited for: VARIANT CMT2B THR-161;

Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
Basuray S.; Mukherjee S.; Romero E.; Wilson M.C.; Wandinger-Ness A.;
PLoS ONE 5:E15351-E15351(2010)
Cited for: CHARACTERIZATION OF VARIANTS CMT2B PHE-129; ASN-157; THR-161 AND MET-162;

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.