In Silico Data
SCN5A Variant R367H Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.91 | 1 | -3.14 | 0.972 | 71 | 15 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
11823453 | 2002 | 1 | 0 | 0 | 1 | SUNDS | |
14687250 | 2004 | 3 | 0 | 1 | 1 | atrial standstill | |
15028074 | 2004 | 11 | 0 | 9 | 0 | ||
15520322 | 2004 | 8 | 0 | 6 | 0 | ||
17697823 | 2007 | 2 | 0 | 2 | 0 | ||
19251209 | 2009 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
22028457 | 2011 | 1 | 0 | 0 | 1 | VF | |
22899775 | 2012 | 2 | 0 | 0 | 2 | Conduction defects | |
24529773 | 2014 | 1 | 0 | 0 | 1 | SUNDS | |
26173111 | 2015 | 1 | 0 | 1 | 0 | ||
28341781 | 2017 | 1 | 0 | 1 | 0 | ||
29024690 | 2017 | 1 | 0 | 1 | 0 | ||
29709101 | 2018 | 1 | 0 | 1 | 0 | ||
30059973 | 2018 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 16 | 3 | 0 | 13 | - | |
VARIANT FEATURES ALONE: | - | 15 | 10 | 0 | 5 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
11823453 | 2002 | Xeno | 0 | |||
14687250 | 2004 | HEK-tSA201 | 0 | |||
15028074 | 2004 | HEK | 0 | |||
15028075 | 2004 | |||||
15520322 | 2004 | |||||
17697823 | 2007 | |||||
19251209 | 2009 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
22028457 | 2011 | HEK-tSA201 | 0 | |||
22899775 | 2012 | |||||
24529773 | 2014 | |||||
26173111 | 2015 | |||||
28341781 | 2017 | |||||
29024690 | 2017 | hiPSC | 55 | 7.42 | -8.51 | 50 |
29709101 | 2018 | |||||
30059973 | 2018 |
R367H has 75 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
261 | 12 | |
264 | 13 | |
265 | 12 | A265V, |
268 | 13 | G268S, |
272 | 14 | |
276 | 13 | L276Q, L276P, |
347 | 14 | |
348 | 13 | P348A, |
349 | 11 | D349N, |
350 | 12 | H350Q, |
351 | 13 | G351D, G351S, G351V, G351C, |
352 | 12 | Y352C, |
353 | 9 | T353I, |
354 | 11 | |
355 | 11 | F355C, F355I, |
358 | 15 | |
359 | 13 | A359T, p.A359PfsX12, |
360 | 11 | |
361 | 10 | |
362 | 10 | |
363 | 6 | |
364 | 5 | |
365 | 7 | |
366 | 7 | |
367 | 0 | R367L, R367C, R367H, |
368 | 5 | |
369 | 9 | M369K, |
370 | 7 | T370M, |
371 | 8 | Q371E, |
372 | 4 | |
373 | 6 | |
374 | 8 | W374G, |
375 | 10 | |
376 | 9 | R376H, R376C, |
377 | 6 | |
378 | 12 | |
379 | 13 | |
380 | 12 | |
381 | 12 | c.1141-3C>A, c.1140+1G>A, |
392 | 13 | |
393 | 11 | |
396 | 11 | V396A, V396L, |
397 | 11 | I397F, I397V, I397T, |
400 | 13 | G400R, G400E, G400A, |
401 | 12 | S401P, |
402 | 15 | F402L, |
404 | 15 | L404Q, L404V, |
405 | 14 | |
893 | 13 | R893H, R893C, |
894 | 12 | I894M, |
896 | 15 | C896S, |
897 | 10 | G897E, G897R, |
898 | 10 | |
899 | 6 | |
900 | 6 | |
901 | 11 | E901K, S901L, |
902 | 12 | |
903 | 9 | p.M903CfsX29, |
904 | 9 | W904X, |
905 | 14 | |
907 | 13 | |
915 | 15 | C915R, |
916 | 12 | |
919 | 13 | |
920 | 11 | |
922 | 15 | V922I, |
923 | 11 | |
927 | 15 | N927S, N927K, |
928 | 15 | L928P, |
1419 | 14 | K1419E, |
1706 | 13 | Q1706H, |
1709 | 13 | T1709R, p.T1709del, T1709M, |
1710 | 14 | S1710L, |
1711 | 12 | c.5131delG, |
1712 | 14 | G1712C, G1712S, |