UniProtKB/Swiss-Prot Q9Y3A5: Variant p.Ile212Thr

Ribosome maturation protein SBDS
Gene: SBDS
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Variant information Variant position:

212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Isoleucine (I) to Threonine (T) at position 212 (I212T, p.Ile212Thr). 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 hydrophobic (I) to medium size and polar (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs79344818 [ dbSNP | Ensembl ]

Sequence information Variant position:

212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

250 The length of the canonical sequence.
Location on the sequence:

PLIKVIESEDYGQQLEIVCL I DPGCFREIDELIKKETKGKG 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                         PLIKVIESEDY-GQQLEIVCLIDPGCFREIDELIKKETKGKG

Mouse                         PLMKVVESEDY-SQQLEIVCLIDPGCFREIDELIKKETKGR

Rat                           PLMKVVESEDY-SQQLEIVCLIDPGCFREIDELIKKETKGK

Bovine                        PLIKVIESEDY-GQQLEIVCLIDPGCFREVDELIKKETKGK

Chicken                       PLIKVIENEDF-HDQLEIVCLIDPGCFREIDELIRSETKGK

Xenopus laevis                PLIKHIESENF-DQELEIVCLIDPGCFREIDELIRCETKGK

Xenopus tropicalis            PLIKHTESENF-DQELEIVCLIDPGCFREIDELIRCETKGK

Caenorhabditis elegans        TLFSDVEVDDWQDGSLEMVGLIEPGSFRALDDLVRNETKGH

Slime mold                    VLVSKIEEEDRDGGGLSIVCLVDPGSYRKIDELIKQETKGK

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	2 – 250	Ribosome maturation protein SBDS
Beta strand	207 – 214

Literature citations
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock G.R.B.; Morrison J.A.; Popovic M.; Richards N.; Ellis L.; Durie P.R.; Rommens J.M.;
Nat. Genet. 33:97-101(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SDS1 LYS-8; GLY-44; GLU-67; SER-87; THR-126 AND CYS-169; VARIANT THR-212;

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.