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UniProtKB/Swiss-Prot Q9UHD8: Variant p.Ser111Phe

Septin-9
Gene: SEPTIN9
Chromosomal location: 17q25
Variant information

Variant position:  111
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Phenylalanine (F) at position 111 (S111F, p.Ser111Phe).
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 polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269|PubMed:16186812, ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:18492087, ECO:0000269|PubMed:19451530}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In HNA.
Any additional useful information about the variant.

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



Sequence information

Variant position:  111
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  586
The length of the canonical sequence.

Location on the sequence:   RRVELSGPKAAEPVSRRTEL  S IDISSKQVENAGAIGPSRFG
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                         RRVELSGPKAAEPVSRRTELSIDISSKQVEN-AGAIGPSRFG

Mouse                         RRVELAGAKAPEPMSRRTEISIDISSKQVESTASAAGPSRF

Rat                           RRVDLAGAKAPEPMSRRTELSIDISSKQVESTASTPGPSRF

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 – 586 Septin-9
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;

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.