UniProtKB/SwissProt variant VAR

Variant information

Variant position:

242

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

Type of variant:

US

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 Lysine (K) to Asparagine (N) at position 242 (K242N, p.Lys242Asn).

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 large size and basic (K) to medium size and polar (N)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

Reduces 25-hydroxylase activity.

Any additional useful information about the variant.

Sequence information

Variant position:

242

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

Protein sequence length:

501

The length of the canonical sequence.

Location on the sequence:

ASASVFLYNAFPWIGILPFG K HQQLFRNAAVVYDFLSRLIE

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                         ASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIE

Mouse                         ASAPVFLYNAFPWIGILPFGKHQRLFRNADVVYDFLSRLIE

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.

Type	Positions	Description
Chain	27 – 501	Vitamin D 25-hydroxylase
Binding site	250 – 250	Substrate; via carbonyl oxygen
Helix	242 – 265

Literature citations

CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency.
Thacher T.D.; Fischer P.R.; Singh R.J.; Roizen J.; Levine M.A.;
J. Clin. Endocrinol. Metab. 100:E1005-1013(2015)
Cited for: VARIANT VDDR1B PRO-99; VARIANT ASN-242; CHARACTERIZATION OF VARIANT VDDR1B PRO-99; CHARACTERIZATION OF VARIANT ASN-242;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6VVX0: Variant p.Lys242Asn