KChannelDB: Extraction of mutation data from the literature

2005, KChannelDB.

This data was extracted from Medline abstracts and full texts (when available) in an automated manner.

The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation V59G was found are listed after the table.

The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.

Point mutation V59G in IRK11_HUMAN

Point mutation:	V59G
Domain:	N-term
General numbering (KChannelDB):	-
Protein:	IRK11_HUMAN (KCNJ1)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein / same position	Point mutations at position 59 in IRK11_HUMAN
Other point mutations / same protein	List of mutations in IRK11_HUMAN
Family alignments	Inward rectifiers (Kir) Potassium channels 2 TMs
Other point mutations / same position	Position 51 in Inward rectifiers (Kir) family Position 51 in Potassium channels 2 TMs family
Reference:	Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT N Engl J Med 2004 Apr 29;350(18):1838-49.	Medline
Other point mutations / same article	List
Text source	PDF full text
Validation status	Not yet checked

Relevant sentences:

V59G

These partial pedigrees show families with the Q52R , V59G , V59M , R201C , R201H , and I296L mutations
NM ISPAD 55 (V59M) NN NN NN NM P ISPAD 43 (I296L) NN NN NM P ISPAD 41 (R201C) NN NN NM P ISPAD 27 (Q52R) NN NN NM NA P ISPAD 19 (R201H) NN NN NN NN NN NM P ISPAD 22 (R201H) NN NN NM P BR 1 (R201H) NN NM NM NM P ISPAD 25 (V59G) NN NN NM P ISPAD 44 (R201H) NN NN NN NM P ISPAD 54 (V59M) NN NN NM P Death at 14 mo 6 2 3 Second cousins Downloaded from www.nejm.org at UC SHARED JOURNAL COLLECTION on May 19 , 2004
Clinical Characteristics of Patients with Mutant Kir6.2.* Characteristic ISPAD 19 ISPAD 22 ISPAD 41 ISPAD 44 ISPAD 54 BR 1 ISPAD 55 ISPAD 25 ISPAD 27 ISPAD 43 Proband Mother Proband Proband Proband Proband Proband Brother Father Proband Proband Proband Proband Sex M F F M F M M M M M M M F Mutation R201H R201H R201H R201C R201H V59M R201H R201H R201H V59M V59G Q52R I296L Birth Weight (g) Percentile for weight Gestation (wk) 2550 9 38 2280 0.4 40 2280 1.3 39 2200 1.5 38 2125 2.5 38 1440 <0.1 37 3080 16 40 3120 18 40 2500 NA NA 2700 1.4 41 1850 29 33 2400 11 37 2550 2.5 40 Findings on presentation Clinical abnormality Hyper- glycemia Keto- acidosis Keto- acidosis Hyper- glycemia Keto- acidosis Hyper- glycemia Hyper- glycemia Hyper- glycemia Hyper- glycemia Hyper- glycemia Hyper- glycemia Hyper- glycemia Hyper- glycemia Glucose (mmol / liter) 15 54 54 36 33 16 23 30 NA 35.1 18 34.5 18.8 Pancreatic autoantibodies Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Age diabetes diagnosed (wk) Birth 6 6 4 15 Birth <4 <3 12 5 1 5 26 Current status Age (yr) 8 36 3 12 2 2 5 3 46 2 4 1.2 (died) ; 0.8 (last assessed) 17 Percentile for height 75 10 10 98 1025 75 10 10 <5 85 1.5 3 <3 Percentile for weight 91 75 25 98 1025 >98 10 10 6 50 1 3 <3 Insulin dose (U / kg / day) 0.6 0.61.0 0.61.0 1.6 0.71.0 1.3 0.7 0.71.3 NA§ 0.3 0.30.4 0.20.5 0.20.4 Glycosylated hemoglobin (%) 8.7 7.410.0 7.410.0 7.0 7.7 9.2 NA NA NA 7.0 9.011.0 9.0 9.010.0 C-peptide (pmol / liter) <170 <200 <200 <100 NA <94 <200 <200 400¶ 613 603 <165 60 Paired glucose (mmol / liter)¿ 18.1 12.0 12.0 16.3 16.3 13.0 13.8 6.1 5.7 16.2 17.2 18.8 Peak C-peptide with glucagon (pmol / liter) <170 <200 <200 NA NA NA NA NA NA NA <165 <165 NA Downloaded from www.nejm.org at UC SHARED JOURNAL COLLECTION on May 19 , 2004
The mutations were a glutamine-to-arginine substitution at position 52 (Q52R) , a valine-to-glycine substitution at position 59 (V59G) , a valine-to-methionine substitution at position 59 (V59M) , an arginine-tohistidine substitution at position 201 (R201H) , an arginine-to-cysteine substitution at position 201 (R201C) , and an isoleucine-to-leucine substitution at position 296 (I296L)
n engl j med 350 ; 18 www.nejm.org april 29 , 2004 The new england journal of medicine V59M , and V59G) are found in the slide helix ; residue 52 lies at one end of the helix , and residue 59 lies midway along its length (Fig. 3)

F.Horn (kchanneldbcmbi.ru.nl), 17-Aug-2005