UniProtKB/Swiss-Prot Q8TDW0: Variant p.Asp205Gly

Volume-regulated anion channel subunit LRRC8C
Gene: LRRC8C
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Variant information Variant position:

205 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 Aspartate (D) to Glycine (G) at position 205 (D205G, p.Asp205Gly). 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 acidic (D) to glycine (G) 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 rs474536 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EKDNRKNNMNRSNTIQSGPE D SLVNSQSLKSIPEKFVVDKS 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                         EKDNRKNNMNRSNTIQSGPEDSLVNSQSLKSIPEKFVVDKS

Mouse                         EKDNRKNNMNRSGTIQSGPEGNLVRSQSLKSIPEKFVVDKS

Rat                           EKDNRKNNMNRSNTIQSGPEGSLVKSQSLKSIPEKFVVDKS

Bovine                        EKDNRKNNMSRSNTTQSGPEGSLVNSQSLKSIPEKFVVDKS

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 – 803	Volume-regulated anion channel subunit LRRC8C
Topological domain	147 – 266	Cytoplasmic
Region	177 – 210	Disordered
Compositional bias	193 – 210	Polar residues
Modified residue	212 – 212	Phosphoserine
Modified residue	215 – 215	Phosphoserine
Disulfide bond	54 – 308
Disulfide bond	115 – 293

Literature citations
Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation.
Tominaga K.; Johmura Y.; Nishizuka M.; Imagawa M.;
J. Cell Sci. 117:6217-6226(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT GLY-205; 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]; VARIANT GLY-205; 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]; VARIANT GLY-205; Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 88-803; VARIANT GLY-205; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-212; VARIANT [LARGE SCALE ANALYSIS] GLY-205; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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