Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6024 | 18295;18296;18297 | chr2:178730330;178730329;178730328 | chr2:179595057;179595056;179595055 |
| N2AB | 5707 | 17344;17345;17346 | chr2:178730330;178730329;178730328 | chr2:179595057;179595056;179595055 |
| N2A | 4780 | 14563;14564;14565 | chr2:178730330;178730329;178730328 | chr2:179595057;179595056;179595055 |
| 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 |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.301 | N | 0.305 | 0.139 | 0.163833314356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/S | rs759852969  |
0.174 | 0.042 | N | 0.257 | 0.087 | 0.126345400529 | gnomAD-2.1.1 | 5.35E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.34474E-04 | None | 0 | 5.49E-05 | 0 |
| N/S | rs759852969 |
0.174 | 0.042 | N | 0.257 | 0.087 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| N/S | rs759852969 |
0.174 | 0.042 | N | 0.257 | 0.087 | 0.126345400529 | gnomAD-4.0.0 | 3.66371E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.31064E-05 | 2.09973E-04 | 1.60426E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.094 | likely_benign | 0.0957 | benign | -0.379 | Destabilizing | None | N | 0.251 | neutral | None | None | None | None | N |
| N/C | 0.1968 | likely_benign | 0.1951 | benign | 0.264 | Stabilizing | 0.667 | D | 0.437 | neutral | None | None | None | None | N |
| N/D | 0.1131 | likely_benign | 0.114 | benign | 0.138 | Stabilizing | 0.301 | N | 0.305 | neutral | N | 0.452750534 | None | None | N |
| N/E | 0.1945 | likely_benign | 0.2011 | benign | 0.125 | Stabilizing | 0.22 | N | 0.281 | neutral | None | None | None | None | N |
| N/F | 0.1902 | likely_benign | 0.2058 | benign | -0.607 | Destabilizing | 0.22 | N | 0.489 | neutral | None | None | None | None | N |
| N/G | 0.1901 | likely_benign | 0.192 | benign | -0.588 | Destabilizing | 0.055 | N | 0.269 | neutral | None | None | None | None | N |
| N/H | 0.0932 | likely_benign | 0.0917 | benign | -0.545 | Destabilizing | 0.822 | D | 0.289 | neutral | N | 0.501485843 | None | None | N |
| N/I | 0.0688 | likely_benign | 0.0697 | benign | 0.093 | Stabilizing | 0.001 | N | 0.268 | neutral | N | 0.414848294 | None | None | N |
| N/K | 0.1547 | likely_benign | 0.1515 | benign | 0.012 | Stabilizing | 0.081 | N | 0.281 | neutral | N | 0.431431112 | None | None | N |
| N/L | 0.072 | likely_benign | 0.0729 | benign | 0.093 | Stabilizing | None | N | 0.263 | neutral | None | None | None | None | N |
| N/M | 0.1334 | likely_benign | 0.1385 | benign | 0.341 | Stabilizing | 0.497 | N | 0.445 | neutral | None | None | None | None | N |
| N/P | 0.1682 | likely_benign | 0.1701 | benign | -0.036 | Destabilizing | 0.364 | N | 0.463 | neutral | None | None | None | None | N |
| N/Q | 0.1808 | likely_benign | 0.187 | benign | -0.45 | Destabilizing | 0.364 | N | 0.307 | neutral | None | None | None | None | N |
| N/R | 0.1738 | likely_benign | 0.1791 | benign | 0.039 | Stabilizing | 0.22 | N | 0.297 | neutral | None | None | None | None | N |
| N/S | 0.069 | likely_benign | 0.0714 | benign | -0.277 | Destabilizing | 0.042 | N | 0.257 | neutral | N | 0.451939671 | None | None | N |
| N/T | 0.0778 | likely_benign | 0.079 | benign | -0.136 | Destabilizing | 0.081 | N | 0.269 | neutral | N | 0.424755856 | None | None | N |
| N/V | 0.0821 | likely_benign | 0.0839 | benign | -0.036 | Destabilizing | None | N | 0.27 | neutral | None | None | None | None | N |
| N/W | 0.5009 | ambiguous | 0.519 | ambiguous | -0.553 | Destabilizing | 0.958 | D | 0.429 | neutral | None | None | None | None | N |
| N/Y | 0.0899 | likely_benign | 0.0935 | benign | -0.304 | Destabilizing | 0.602 | D | 0.45 | neutral | N | 0.450923737 | 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.