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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TC36: Variant p.Thr275Met

SUN domain-containing protein 5
Gene: SUN5
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Variant information Variant position: help 275 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 275 (T275M, p.Thr275Met). 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 SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 275 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 379 The length of the canonical sequence.
Location on the sequence: help EGDRGQVTIQLAQKVYLSNL T LQHIPKTISLSGSLDTAPKD 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                         EGDRGQVTIQLAQKVYLSNLTLQHIPKTISLSGSLDTAPKD

Mouse                         ASDRGQVTIRLAQKVYLSNITLQHIPKTISLSGSPDTAPKD
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 – 379 SUN domain-containing protein 5
Topological domain 123 – 379 Perinuclear space
Domain 205 – 364 SUN



Literature citations
Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome.
Zhu F.; Wang F.; Yang X.; Zhang J.; Wu H.; Zhang Z.; Zhang Z.; He X.; Zhou P.; Wei Z.; Gecz J.; Cao Y.;
Am. J. Hum. Genet. 99:942-949(2016)
Cited for: VARIANTS SPGF16 ARG-114; LYS-162; MET-261; MET-275; 284-SER--ASP-379 DEL; ILE-348 AND CYS-356; CHARACTERIZATION OF VARIANTS SPGF16 ARG-114; MET-275; 284-SER--ASP-379 DEL AND ILE-348; SUBCELLULAR LOCATION; INVOLVEMENT IN SPGF16; TISSUE SPECIFICITY; Essential role for SUN5 in anchoring sperm head to the tail.
Shang Y.; Zhu F.; Wang L.; Ouyang Y.C.; Dong M.Z.; Liu C.; Zhao H.; Cui X.; Ma D.; Zhang Z.; Yang X.; Guo Y.; Liu F.; Yuan L.; Gao F.; Guo X.; Sun Q.Y.; Cao Y.; Li W.;
Elife 6:0-0(2017)
Cited for: VARIANTS SPGF16 ARG-114 AND MET-275; FUNCTION; Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.
Shang Y.; Yan J.; Tang W.; Liu C.; Xiao S.; Guo Y.; Yuan L.; Chen L.; Jiang H.; Guo X.; Qiao J.; Li W.;
J. Biol. Chem. 293:2395-2407(2018)
Cited for: VARIANTS SPGF16 159-ARG--ASP-379 DEL AND LYS-162; CHARACTERIZATION OF VARIANTS SPGF16 159-ARG--ASP-379 DEL; LYS-162; MET-261; MET-275; SER-284--ASP-379 DEL; ILE-348 AND CYS-356;
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.