Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P80370: Variant p.Arg101Gly

Protein delta homolog 1
Gene: DLK1
Feedback?
Variant information Variant position: help 101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Arginine (R) to Glycine (G) at position 101 (R101G, p.Arg101Gly). 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 large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

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


Sequence information Variant position: help 101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 383 The length of the canonical sequence.
Location on the sequence: help DGELCDRDVRACSSAPCANN R TCVSLDDGLYECSCAPGYSG 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                         DGELCDRDVRACSSAP--CANNRTCVSLDDGLYECSCAPGYS-G

Mouse                         DGKFCEIDVRACTSTP--CANNGTCVDLEKGQYECSCTPGF

Rat                           DGKFCEIDIRACTSTP--CANNGTCVDLEKGQYECSCTPGF

Caenorhabditis elegans        DDMSSDEDVQPCRGSPYRCSNTSSSSGVQSSPFSRQSSSRS

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 24 – 383 Protein delta homolog 1
Chain 24 – 303 Fetal antigen 1
Topological domain 24 – 303 Extracellular
Domain 88 – 125 EGF-like 3
Glycosylation 94 – 94 O-linked (GalNAc...) serine
Glycosylation 100 – 100 N-linked (GlcNAc...) asparagine
Disulfide bond 92 – 103
Disulfide bond 97 – 113



Literature citations
dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line.
Laborda J.; Sausville E.A.; Hoffman T.; Notario V.;
J. Biol. Chem. 268:3817-3820(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS GLY-101 AND GLY-108; dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA.
Lee Y.L.; Helman L.; Hoffman T.; Laborda J.;
Biochim. Biophys. Acta 1261:223-232(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT); VARIANTS GLY-101 AND GLY-108; The sequence of an adrenal specific human cDNA, pG2.
Helman L.J.; Sack N.; Plon S.; Israel M.A.;
Nucleic Acids Res. 18:685-685(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANT GLY-101; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG); VARIANT GLY-101; Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2.
Jensen C.H.; Krogh T.N.; Hoejrup P.; Clausen P.P.; Skjoedt K.; Larsson L.-I.; Enghild J.J.; Teisner B.;
Eur. J. Biochem. 225:83-92(1994)
Cited for: PROTEIN SEQUENCE OF 24-383; GLYCOSYLATION AT SER-94; ASN-100; THR-143; SER-163; ASN-165; ASN-172; SER-214; THR-222; SER-251 AND SER-260; VARIANT GLY-101;
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.