UniProtKB/SwissProt variant VAR

Hepatocyte growth factor-regulated tyrosine kinase substrate
Gene: HGS
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Variant information Variant position:

7
Type of variant:

LB/B
Residue change:

From Threonine (T) to Serine (S) at position 7 (T7S, p.Thr7Ser).
Physico-chemical properties:

Change from medium size and polar (T) to small size and polar (S)
BLOSUM score:

1
Other resources:

Variant rs753682847 [ dbSNP | Ensembl ]

Sequence information Variant position:

7
Protein sequence length:

777
Location on the sequence:

MGRGSG T FERLLDKATSQLLLETDWES
Residue conservation:

Human                         MGRGSGTFERLLDKATSQLLLETDWES

Mouse                         MGRGSGTFERLLDKATSQLLLETDWES

Rat                           MGRGSGTFERLLDKATSQLLLETDWES

Bovine                        MGRGSGTFERLLDKATSQLLLETDWES

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 777	Hepatocyte growth factor-regulated tyrosine kinase substrate
Helix	7 – 15

Literature citations
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-7;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14964: Variant p.Thr7Ser