UniProtKB/Swiss-Prot Q9BZD4: Variant p.Ser229Leu

Kinetochore protein Nuf2
Gene: NUF2
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Variant information Variant position:

229 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 Serine (S) to Leucine (L) at position 229 (S229L, p.Ser229Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

Links to websites of interest for the variant.

Variant rs11802875 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NSQKKSNISEKTKRLNELKL S VVSLKEIQESLKTKIVDSPE 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                         NSQKKSNISEKTKRLNELKLSVVSLKEIQESLKTKIVDSPE

Mouse                         YAKMKSDISEKTKHLNEQKLSLVSLKEVEDNLKSKIVDSPE

Rat                           YTKMKSDFSEKTKHVNELKLSVVSLKEVQDSLKSKIVDSPE

Chicken                       ISQKKSDITERTRKLNELKVTMATLKEEQEQLKSKIVESPE

Zebrafish                     VAQFKTEIAELSQKLTQRKVEVATLKDEISKLKSQIVESPE

Caenorhabditis elegans        LDKQK---EEAILHIQALEKEMLTGKKTIEHLNEEVLTSPE

Baker's yeast                 YNDYKISKQSIFKDLEALSFQIVELESNRDKLIKISNTDME

Fission yeast                 YDRIRMEASELKIRYHNVDSLMASTLEEIEKLQSSIVHSPE

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	1 – 464	Kinetochore protein Nuf2
Region	1 – 385	Interaction with the N-terminus of NDC80
Coiled coil	147 – 345
Modified residue	247 – 247	Phosphoserine

Literature citations
A conserved protein, Nuf2, is implicated in connecting the centromere to the spindle during chromosome segregation: a link between the kinetochore function and the spindle checkpoint.
Nabetani A.; Koujin T.; Tsutsumi C.; Haraguchi T.; Hiraoka Y.;
Chromosoma 110:322-334(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-229; The Ndc80p complex from Saccharomyces cerevisiae contains conserved centromere components and has a function in chromosome segregation.
Wigge P.A.; Kilmartin J.V.;
J. Cell Biol. 152:349-360(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-229;

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.