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UniProtKB/Swiss-Prot Q8TC36: Variant p.Asn348Ile

SUN domain-containing protein 5
Gene: SUN5
Variant information

Variant position:  348
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 Asparagine (N) to Isoleucine (I) at position 348 (N348I, p.Asn348Ile).
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 (N) to medium size and hydrophobic (I)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In SPGF16; loss of protein expression; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13.
Any additional useful information about the variant.

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



Sequence information

Variant position:  348
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  379
The length of the canonical sequence.

Location on the sequence:   QNQPARAFSAVKVKISSNWG  N PGFTCLYRVRVHGSVAPPRE
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                         QNQPARAFSAVKVKISSNWGNPGFTCLYRVRVHGSVAPPRE

Mouse                         QNLPPRSFAAVKVKISSNWGNPRFTCMYRVRVHGSVTPPKD

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 – 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;

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.