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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UHD8: Variant p.Arg106Trp

Septin-9
Gene: SEPTIN9
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Variant information Variant position: help 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 106 (R106W, p.Arg106Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In HNA. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 586 The length of the canonical sequence.
Location on the sequence: help PKASLRRVELSGPKAAEPVS R RTELSIDISSKQVENAGAIG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PKASLRRVELSGPKAAEPVSRRTELSIDISSKQVEN-AGAIG

Mouse                         PKPSLRRVELAGAKAPEPMSRRTEISIDISSKQVESTASAA

Rat                           PKPSLRRVDLAGAKAPEPMSRRTELSIDISSKQVESTASTP
Sequence annotation in neighborhood: help 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 – 586 Septin-9
Region 62 – 108 Disordered
Modified residue 89 – 89 Phosphoserine
Modified residue 96 – 96 Phosphoserine
Alternative sequence 1 – 251 Missing. In isoform 4.
Alternative sequence 1 – 224 Missing. In isoform 9.
Alternative sequence 1 – 164 Missing. In isoform 3.
Alternative sequence 1 – 112 Missing. In isoform 8.



Literature citations
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
Sudo K.; Ito H.; Iwamoto I.; Morishita R.; Asano T.; Nagata K.;
Hum. Mutat. 28:1005-1013(2007)
Cited for: SUBCELLULAR LOCATION; INTERACTION WITH SEPTIN4; VARIANTS HNA TRP-106 AND PHE-111; Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Kuhlenbaeumer G.; Hannibal M.C.; Nelis E.; Schirmacher A.; Verpoorten N.; Meuleman J.; Watts G.D.J.; De Vriendt E.; Young P.; Stoegbauer F.; Halfter H.; Irobi J.; Goossens D.; Del-Favero J.; Betz B.G.; Hor H.; Kurlemann G.; Bird T.D.; Airaksinen E.; Mononen T.; Serradell A.P.; Prats J.M.; Van Broeckhoven C.; De Jonghe P.; Timmerman V.; Ringelstein E.B.; Chance P.F.;
Nat. Genet. 37:1044-1046(2005)
Cited for: VARIANTS HNA TRP-106 AND PHE-111; Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study.
Laccone F.; Hannibal M.C.; Neesen J.; Grisold W.; Chance P.F.; Rehder H.;
Clin. Genet. 74:279-283(2008)
Cited for: VARIANT HNA TRP-106; SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Hannibal M.C.; Ruzzo E.K.; Miller L.R.; Betz B.; Buchan J.G.; Knutzen D.M.; Barnett K.; Landsverk M.L.; Brice A.; LeGuern E.; Bedford H.M.; Worrall B.B.; Lovitt S.; Appel S.H.; Andermann E.; Bird T.D.; Chance P.F.;
Neurology 72:1755-1759(2009)
Cited for: VARIANTS HNA TRP-106 AND PHE-111; VARIANT LEU-145;
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.