Paralogue Annotation for KCNJ2 residue 101

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 101
Reference Amino Acid: C - Cysteine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 101

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ10	V84M	Autism, seizures & intellectual disability	Medium	9	21458570

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.

KCNJ2	DIFTTCVDIRWRWMLVIFCLAFVLSWLFFG>C<VFWLIALLHGDLDAS---------------	116
KCNJ1	DIWTTVLDLKWRYKMTIFITAFLGSWFFFG>L<LWYAVAYIHKDLPEF--HP-----------	114
KCNJ3	DLFTTLVDLKWRWNLFIFILTYTVAWLFMA>S<MWWVIAYTRGDLNKA--HV-----------	117
KCNJ4	DIFTTCVDTRWRYMLMIFSAAFLVSWLFFG>L<LFWCIAFFHGDLEAS--PGVPAAGGPAAGG	103
KCNJ5	DLFTTLVDLKWRFNLLVFTMVYTVTWLFFG>F<IWWLIAYIRGDLDHV--GD-----------	123
KCNJ6	DIFTTLVDLKWRFNLLIFVMVYTVTWLFFG>M<IWWLIAYIRGDMDHI--ED-----------	126
KCNJ8	DIFTTLVDLKWRHTLVIFTMSFLCSWLLFA>I<MWWLVAFAHGDIYAY--MEKS--G------	109
KCNJ9	DLFTTLVDLQWRLSLLFFVLAYALTWLFFG>A<IWWLIAYGRGDLEHL--ED-----------	94
KCNJ10	DLWTTFIDMQWRYKLLLFSATFAGTWFLFG>V<VWYLVAVAHGDLLEL--DP-----------	101
KCNJ11	DVFTTLVDLKWPHTLLIFTMSFLCSWLLFA>M<AWWLIAFAHGDLAP----S-E---------	104
KCNJ12	DMFTTCVDIRWRYMLLIFSLAFLASWLLFG>I<IFWVIAVAHGDLEPA--EG-----------	117
KCNJ13	DAWGILMDMRWRWMMLVFSASFVVHWLVFA>V<LWYVLAEMNGDLELDHDAP-----------	92
KCNJ14	DLFTTCVDVRWRWMCLLFSCSFLASWLLFG>L<AFWLIASLHGDLAAP--P------------	122
KCNJ15	DLWTTVIDMKWRYKLTLFAATFVMTWFLFG>V<IYYAIAFIHGDLEPG--EP-----------	100
KCNJ16	DIFTTLVDTKWRHMFVIFSLSYILSWLIFG>S<VFWLIAFHHGDLLND--P------------	106
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C101R	c.301T>C	Inherited Arrhythmia	LQTS	rs199473374	SIFT: deleterious Polyphen: possibly damaging
Reports		Other Cardiac Phenotype		Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm. 2004 1(2):235-41. 15851159
		Inherited Arrhythmia	LQTS	Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 111(21):2720-6. 15911703
		Other Cardiac Phenotype		New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405
p.C101F	c.302G>T	Putative Benign			SIFT: Polyphen: