Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6331 | 19216;19217;19218 | chr2:178729047;178729046;178729045 | chr2:179593774;179593773;179593772 |
N2AB | 6014 | 18265;18266;18267 | chr2:178729047;178729046;178729045 | chr2:179593774;179593773;179593772 |
N2A | 5087 | 15484;15485;15486 | chr2:178729047;178729046;178729045 | chr2:179593774;179593773;179593772 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/L | rs1198892837 | -0.125 | 0.906 | N | 0.297 | 0.128 | 0.505885190548 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
I/L | rs1198892837 | -0.125 | 0.906 | N | 0.297 | 0.128 | 0.505885190548 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
I/L | rs1198892837 | -0.125 | 0.906 | N | 0.297 | 0.128 | 0.505885190548 | gnomAD-4.0.0 | 3.72031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23934E-06 | 0 | 1.60251E-05 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.2336 | likely_benign | 0.1984 | benign | -0.729 | Destabilizing | 0.927 | D | 0.387 | neutral | None | None | None | None | N |
I/C | 0.5087 | ambiguous | 0.4906 | ambiguous | -0.569 | Destabilizing | 0.999 | D | 0.403 | neutral | None | None | None | None | N |
I/D | 0.3903 | ambiguous | 0.3427 | ambiguous | -0.168 | Destabilizing | 0.02 | N | 0.251 | neutral | None | None | None | None | N |
I/E | 0.2887 | likely_benign | 0.2558 | benign | -0.246 | Destabilizing | 0.759 | D | 0.431 | neutral | None | None | None | None | N |
I/F | 0.0993 | likely_benign | 0.0935 | benign | -0.65 | Destabilizing | 0.996 | D | 0.403 | neutral | N | 0.489478218 | None | None | N |
I/G | 0.4565 | ambiguous | 0.4014 | ambiguous | -0.926 | Destabilizing | 0.939 | D | 0.426 | neutral | None | None | None | None | N |
I/H | 0.2548 | likely_benign | 0.223 | benign | -0.234 | Destabilizing | 0.997 | D | 0.417 | neutral | None | None | None | None | N |
I/K | 0.1837 | likely_benign | 0.1541 | benign | -0.425 | Destabilizing | 0.884 | D | 0.427 | neutral | None | None | None | None | N |
I/L | 0.0823 | likely_benign | 0.0821 | benign | -0.323 | Destabilizing | 0.906 | D | 0.297 | neutral | N | 0.489420623 | None | None | N |
I/M | 0.0866 | likely_benign | 0.0831 | benign | -0.351 | Destabilizing | 0.996 | D | 0.423 | neutral | D | 0.531421961 | None | None | N |
I/N | 0.1461 | likely_benign | 0.1237 | benign | -0.173 | Destabilizing | 0.92 | D | 0.434 | neutral | N | 0.519319456 | None | None | N |
I/P | 0.2591 | likely_benign | 0.2316 | benign | -0.425 | Destabilizing | 0.997 | D | 0.43 | neutral | None | None | None | None | N |
I/Q | 0.2263 | likely_benign | 0.1927 | benign | -0.385 | Destabilizing | 0.982 | D | 0.427 | neutral | None | None | None | None | N |
I/R | 0.147 | likely_benign | 0.1243 | benign | 0.112 | Stabilizing | 0.046 | N | 0.348 | neutral | None | None | None | None | N |
I/S | 0.1956 | likely_benign | 0.1673 | benign | -0.659 | Destabilizing | 0.92 | D | 0.398 | neutral | N | 0.504176645 | None | None | N |
I/T | 0.1942 | likely_benign | 0.1578 | benign | -0.626 | Destabilizing | 0.959 | D | 0.387 | neutral | N | 0.488439188 | None | None | N |
I/V | 0.0793 | likely_benign | 0.0765 | benign | -0.425 | Destabilizing | 0.906 | D | 0.309 | neutral | N | 0.450632949 | None | None | N |
I/W | 0.5448 | ambiguous | 0.5127 | ambiguous | -0.682 | Destabilizing | 0.999 | D | 0.497 | neutral | None | None | None | None | N |
I/Y | 0.2749 | likely_benign | 0.2638 | benign | -0.432 | Destabilizing | 0.997 | D | 0.417 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.