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UniProtKB/Swiss-Prot P12111: Variant p.Met2927Thr

Collagen alpha-3(VI) chain
Gene: COL6A3
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Variant information Variant position: help 2927
Type of variant: help LB/B
Residue change: help From Methionine (M) to Threonine (T) at position 2927 (M2927T, p.Met2927Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to medium size and polar (T)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 2927
Protein sequence length: help 3177
Location on the sequence: help PAAAKPAPAKPVAAKPVATK M ATVRPPVAVKPATAAKPVAA
Residue conservation: help 
Human                         PAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAA

Chicken                       PAASTSAHAKTTTASTTAQTRATERP-------TESTTVQV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 3177 Collagen alpha-3(VI) chain
Region 2376 – 3177 Nonhelical region
Alternative sequence 1444 – 3177 Missing. In isoform 3 and isoform 5.



Literature citations
Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors.
Chu M.-L.; Zhang R.-Z.; Pan T.-C.; Stokes D.; Conway D.; Kuo H.-J.; Glanville R.; Mayer U.; Mann K.; Deutzmann R.; Timpl R.;
EMBO J. 9:385-393(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; HYDROXYLATION AT PRO-2100; LYS-2103; PRO-2206; LYS-2209; LYS-2212; PRO-2239; PRO-2316; PRO-2319; LYS-2322 AND LYS-2337; VARIANTS VAL-2431; THR-2927; VAL-2988 AND PRO-3012;
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.