UniProtKB/Swiss-Prot Q9NSI6: Variant p.Leu1699Pro

Bromodomain and WD repeat-containing protein 1
Gene: BRWD1
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Variant information Variant position:

1699 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 Leucine (L) to Proline (P) at position 1699 (L1699P, p.Leu1699Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs1041439 [ dbSNP | Ensembl ]

Sequence information Variant position:

1699 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2320 The length of the canonical sequence.
Location on the sequence:

EDEQSLKSEIEEEELKDENQ L LPVSSSHTAQSNVDESENRD 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                         EDEQSLKSEIEEEELKDENQLLPVSSSHTAQSNVDESENRD

Mouse                         -DDQSLKSET--EELKDQNQSLLISGPHSVHNSIS-----D

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 – 2320	Bromodomain and WD repeat-containing protein 1
Region	1670 – 1805	Disordered
Modified residue	1683 – 1683	Phosphoserine
Modified residue	1686 – 1686	Phosphoserine
Alternative sequence	121 – 2320	Missing. In isoform D.

Literature citations
Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21.
Ramos V.C.; Vidal-Taboada J.M.; Bergonon S.; Egeo A.; Fisher E.M.C.; Scartezzini P.; Oliva R.;
Biochim. Biophys. Acta 1577:377-383(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B); TISSUE SPECIFICITY; VARIANT PRO-1699; Isolation and characterization of a new chromosome 21 gene, WDR9, with different alternatively spliced transcripts and different protein forms.
Scott H.S.; Barras C.; Mittaz L.; Michaud J.; Guidi S.; Scamuffa N.; Antonarakis S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B); VARIANTS PRO-1511 AND PRO-1699; Isolation of WDR9 cDNA on human chromosome 21q22.3.
Obayashi I.; Shibuya K.; Minoshima S.; Kudoh J.; Shimizu N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B AND C); VARIANTS GLU-83 AND PRO-1699; High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.
Vidal-Taboada J.M.; Bergonon S.; Sanchez M.; Lopez-Acedo C.; Groet J.; Nizetic D.; Egeo A.; Scartezzini P.; Katsanis N.; Fisher E.M.C.; Delabar J.-M.; Oliva R.;
Biochem. Biophys. Res. Commun. 243:572-578(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1560-1779; VARIANT PRO-1699; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1645-2320 (ISOFORM B); VARIANT PRO-1699;

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.