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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IYM1: Variant p.Thr89Met

Septin-12
Gene: SEPTIN12
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Variant information Variant position: help 89 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 Threonine (T) to Methionine (M) at position 89 (T89M, p.Thr89Met). 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 medium size and polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In SPGF10; results in significantly reduced GTP hydrolysis; disrupts interaction with SEPTIN7, SEPTIN6 and SEPTIN2; decreases interaction with SPAG4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 358 The length of the canonical sequence.
Location on the sequence: help LFKSKVWKSNPPGLGVPTPQ T LQLHSLTHVIEEKGVKLKLT 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                         LFKSKVWKSNPPGLGVPTPQTLQLHSLTHVIEEKGVKLKLT

Rat                           LFKSKVWQSPAPNLDVPMPQTLELHSVTHVIEEKGLKLKLT

Bovine                        LFKSKIWKSTMPGLRVPMPQTLQLHYVTHVIEENGVKLKLT
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 – 358 Septin-12
Domain 46 – 317 Septin-type G
Region 46 – 319 Interaction with SEPTIN7
Binding site 89 – 89



Literature citations
SEPT12 mutations cause male infertility with defective sperm annulus.
Kuo Y.C.; Lin Y.H.; Chen H.I.; Wang Y.Y.; Chiou Y.W.; Lin H.H.; Pan H.A.; Wu C.M.; Su S.M.; Hsu C.C.; Kuo P.L.;
Hum. Mutat. 33:710-719(2012)
Cited for: SUBCELLULAR LOCATION; VARIANTS SPGF10 MET-89 AND ASN-197; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197; SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octomeric complexes with other SEPT proteins.
Kuo Y.C.; Shen Y.R.; Chen H.I.; Lin Y.H.; Wang Y.Y.; Chen Y.R.; Wang C.Y.; Kuo P.L.;
J. Cell Sci. 128:923-934(2015)
Cited for: FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197; SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.
Yeh C.H.; Kuo P.L.; Wang Y.Y.; Wu Y.Y.; Chen M.F.; Lin D.Y.; Lai T.H.; Chiang H.S.; Lin Y.H.;
PLoS ONE 10:E0120722-E0120722(2015)
Cited for: INTERACTION WITH SPAG4 AND LMNB1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197;
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.