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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30613: Variant p.Ile153Thr

Pyruvate kinase PKLR
Gene: PKLR
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Variant information Variant position: help 153
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Threonine (T) at position 153 (I153T, p.Ile153Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In CNSHA2.


Sequence information Variant position: help 153
Protein sequence length: help 574
Location on the sequence: help NVREAVESFAGSPLSYRPVA I ALDTKGPEIRTGILQGGPES
Residue conservation: help 
Human                         NVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPES

                              NIREAVESFATSPLGYRPVAIALDTKGPEIRTGVLKGGPET

Mouse                         NIREAAESFATSPLSYRPVAIALDTKGPEIRTGVLQGGPES

Rat                           NIREATESFATSPLSYRPVAIALDTKGPEIRTGVLQGGPES
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 574 Pyruvate kinase PKLR
Binding site 156 – 156
Binding site 157 – 157
Binding site 163 – 163
Beta strand 152 – 156



Literature citations
Hematologically important mutations: red cell pyruvate kinase (third update).
Bianchi P.; Zanella A.;
Blood Cells Mol. Dis. 26:47-53(2000)
Cited for: REVIEW; VARIANTS CNSHA2 THR-153; VAL-159; ASN-293; ASP-352; TRP-385; GLY-468 AND ALA-557;
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.