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UniProtKB/Swiss-Prot Q9HAZ2: Variant p.Asn816Ser

Histone-lysine N-methyltransferase PRDM16
Gene: PRDM16
Variant information

Variant position:  816
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 Serine (S) at position 816 (N816S, p.Asn816Ser).
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 small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In LVNC8.
Any additional useful information about the variant.

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



Sequence information

Variant position:  816
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1276
The length of the canonical sequence.

Location on the sequence:   ASGEEQPLDLSIGSRARASQ  N GGGREPRKNHVYGERKLGAG
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                         ASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAG

Mouse                         SSGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKPGVS

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 – 1276 Histone-lysine N-methyltransferase PRDM16
Region 679 – 1038 Interaction with CTBP1, CTBP2 and ZNF516
Region 739 – 1276 Mediates interaction with SKI and regulation of TGF-beta signaling


Literature citations

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt A.K.; Schafer S.; Drenckhahn J.D.; Sabeh M.K.; Plovie E.R.; Caliebe A.; Klopocki E.; Musso G.; Werdich A.A.; Kalwa H.; Heinig M.; Padera R.F.; Wassilew K.; Bluhm J.; Harnack C.; Martitz J.; Barton P.J.; Greutmann M.; Berger F.; Hubner N.; Siebert R.; Kramer H.H.; Cook S.A.; MacRae C.A.; Klaassen S.;
Am. J. Hum. Genet. 93:67-77(2013)
Cited for: VARIANT LVNC8 SER-816; VARIANTS CMD1LL LYS-271; LEU-291 AND PRO-887; VARIANT MET-1101; TISSUE SPECIFICITY;

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.