UniProtKB/SwissProt variant VAR

Stromelysin-1
Gene: MMP3
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Variant information Variant position:

45
Type of variant:

LB/B
Residue change:

From Lysine (K) to Glutamate (E) at position 45 (K45E, p.Lys45Glu).
Physico-chemical properties:

Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score:

1
Other resources:

Variant rs679620 [ dbSNP | Ensembl ]

Sequence information Variant position:

45
Protein sequence length:

477
Location on the sequence:

RGEDTSMNLVQKYLENYYDL K KDVKQFVRRKDSGPVVKKIR
Residue conservation:

Human                         RGED-TSMNLVQKYLENYYDLKKDVKQFVRRKDSGPVVKKIR

                              EDEN-NNMELTQQYLENYYNLGKDVKPFVRRRNSGPVVEKI

Mouse                         RDDD-AGMELLQKYLENYYGLAKDVKQFIKKKDSSLIVKKI

Rat                           -EED-AGMEVLQKYLENYYGLEKDVKQFTKKKDSSPVVKKI

Rabbit                        RDADTTNMDLLQQYLENYYNLEKDVKQFVKRKDSSPVVKKI

Horse                         RDED-SNMDLLQDYLEKYYDLGKEMRQYVRRKDSGPIVKKI

Sequence annotation in neighborhood:

Type	Positions	Description
Propeptide	18 – 99	Activation peptide

Literature citations
Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLU-45; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-45; 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 GLU-45;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08254: Variant p.Lys45Glu