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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Thr614Ile

Variant information

Variant position:  614
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 Threonine (T) to Isoleucine (I) at position 614 (T614I, p.Thr614Ile).
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 medium size and polar (T) to medium size and hydrophobic (I)
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 SPG4; variant form with congenital arachnoid cysts.
Any additional useful information about the variant.

Sequence information

Variant position:  614
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  616
The length of the canonical sequence.

Location on the sequence:   RSVSPQTLEAYIRWNKDFGD  T TV
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                         RSVSPQTLEAYIRWNKDFGDTT-V

Mouse                         RSVSPQTLEAYIRWNKDFGDTT-

Rat                           RSVSPQTLEAYIRWNKDFGDTT-

Pig                           RSVSPQTLEAYIRWNKDFGDTT-

Bovine                        RSVSPQTLEAYIRWNKDFGDTT-

Chicken                       RSLSPQTLEAYIRWNKDFGDTT-

Xenopus laevis                CSVSHSTLESYIRWNQDFGDTT-

Xenopus tropicalis            CSVSPSTLESYIRWNKEFGDTT-

Zebrafish                     RSVSPQTLDQYVRWNREYGDTTG

Caenorhabditis elegans        PSTSQKIMSKLSDFSRSFG----

Drosophila                    RSVAPQSLNSYEKWSQDYGDIT-

Slime mold                    PSVTSQSLKSFEKWNQKFGT---

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.

Chain 1 – 616 Spastin
Topological domain 78 – 616 Cytoplasmic
Region 228 – 616 Sufficient for microtubule severing
Modified residue 597 – 597 Phosphoserine

Literature citations

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
Orlacchio A.; Gaudiello F.; Totaro A.; Floris R.; St George-Hyslop P.H.; Bernardi G.; Kawarai T.;
Neurology 62:1875-1878(2004)
Cited for: VARIANT SPG4 ILE-614;

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.