Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13315: Variant p.Leu1322Ile

Serine-protein kinase ATM
Gene: ATM
Feedback?
Variant information Variant position: help 1322
Type of variant: help LB/B
Residue change: help From Leucine (L) to Isoleucine (I) at position 1322 (L1322I, p.Leu1322Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 2
Variant description: help No effect on phosphorylation of target proteins.
Other resources: help


Sequence information Variant position: help 1322
Protein sequence length: help 3056
Location on the sequence: help GTRDSGMAQQRETATKVYDM L KSENLLGKQIDHLFISNLPE
Residue conservation: help 
Human                         GTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPE

Mouse                         GTRDSYVSQKRETATKVYDTLKGEDFLGKQIDQVFISNLPE

Pig                           DTGDRGMAQQRETASKVYDMLKDENLLGKQIDQLFINNLPE

Caenorhabditis elegans        -----SIFKQQPAMCCEKLLIFAEECVELGLNHRIACLL--

Drosophila                    --KNSSCSESEGQNFKEHLQLLSENLSYSQLNATDVDLDLD

Baker's yeast                 GNGDAYLVDNS------YYLCIPLAFISGGVNELIFDILPQ

Fission yeast                 -TTYTHLSEVENKKYSLRFNSIDEAL------DVELLNRSK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 3056 Serine-protein kinase ATM
Helix 1306 – 1322



Literature citations
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Barone G.; Groom A.; Reiman A.; Srinivasan V.; Byrd P.J.; Taylor A.M.;
Hum. Mutat. 30:1222-1230(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS AT LEU-292; PRO-1465; ILE-1743; THR-2274; GLY-2424; 2427-LEU-ARG-2428 DEL; 2546-SER--ILE-2548 DEL; ASP-2554; GLY-2668; CYS-2827; 2855-SER-VAL-2856 DELINS ARG-ILE AND CYS-3008; CHARACTERIZATION OF VARIANTS VAL-546; ARG-1054; ILE-1322; ARG-1691; CYS-1961 AND SER-2765; VARIANT ILE-1322; MUTAGENESIS OF LYS-1807; VAL-1941; TYR-2019; GLU-2039; LEU-2338; SER-2394; LEU-2452; SER-2685; PRO-2699; ASP-2708 AND GLN-2730;
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.