UniProtKB/Swiss-Prot Q9HC96: Variant p.Thr504Ala

Calpain-10
Gene: CAPN10
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Variant information Variant position:

504 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 Threonine (T) to Alanine (A) at position 504 (T504A, p.Thr504Ala). 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 polar (T) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs7607759 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RVFSTGRVSLSAIRAVAKNT T PGAALPAGEWGTVQLRGSWR 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                         RVFSTGRVSLSAIRAVAKNTTPGAALPAGEWGTVQLRGSWR

Mouse                         RVFSTGKISLSAVRLATKGASPGTALPAGEWETVQLQGCWR

Rat                           RVFSTGKISLSAVRLATKGASPGAALPAGEWETVQLQGSWR

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 – 672	Calpain-10
Alternative sequence	48 – 581	Missing. In isoform H.
Alternative sequence	140 – 672	Missing. In isoform G.
Alternative sequence	275 – 672	Missing. In isoform F.
Alternative sequence	428 – 582	Missing. In isoform C.
Alternative sequence	445 – 672	Missing. In isoform E.
Alternative sequence	494 – 544	SAIRAVAKNTTPGAALPAGEWGTVQLRGSWRVGQTAGGSRNFASYPTNPCF -> RALAPAASASLCISTAGPVTPSSTPSASISSRSQRVEGARTHPHCCCRSRC. In isoform B.
Alternative sequence	494 – 513	SAIRAVAKNTTPGAALPAGE -> RSQRVEGARTHPHCCCRSRC. In isoform D.

Literature citations
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.
Horikawa Y.; Oda N.; Cox N.J.; Li X.; Orho-Melander M.; Hara M.; Hinokio Y.; Lindner T.H.; Mashima H.; Schwarz P.E.H.; del Bosque-Plata L.; Horikawa Y.; Oda Y.; Yoshiuchi I.; Colilla S.; Polonsky K.S.; Wei S.; Concannon P.; Iwasaki N.; Schulze J.; Baier L.J.; Bogardus C.; Groop L.; Boerwinkle E.; Hanis C.L.; Bell G.I.;
Nat. Genet. 26:163-175(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; ALTERNATIVE SPLICING; VARIANTS THR-200; HIS-202; VAL-341; ALA-504; SER-529; ASN-613 AND VAL-666; INVOLVEMENT IN SUSCEPTIBILITY TO T2D1; 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] (ISOFORM A); VARIANTS ALA-504 AND VAL-666;

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.