Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17521 | 52786;52787;52788 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| N2AB | 15880 | 47863;47864;47865 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| N2A | 14953 | 45082;45083;45084 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| N2B | 8456 | 25591;25592;25593 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| Novex-1 | 8581 | 25966;25967;25968 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| Novex-2 | 8648 | 26167;26168;26169 | chr2:178608322;178608321;178608320 | chr2:179473049;179473048;179473047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs794729456  |
0.128 | 0.027 | N | 0.342 | 0.072 | 0.173771789658 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs794729456 |
0.128 | 0.027 | N | 0.342 | 0.072 | 0.173771789658 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs794729456 |
0.128 | 0.027 | N | 0.342 | 0.072 | 0.173771789658 | gnomAD-4.0.0 | 2.56658E-06 | None | None | None | None | N | None | 3.38719E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | None | None | None | N | 0.189 | 0.092 | 0.202086224978 | gnomAD-4.0.0 | 3.42372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53537E-05 | None | 0 | 1.73732E-04 | 2.69965E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6119 | likely_pathogenic | 0.4997 | ambiguous | -0.043 | Destabilizing | 0.067 | N | 0.373 | neutral | None | None | None | None | N |
| K/C | 0.7685 | likely_pathogenic | 0.7049 | pathogenic | -0.571 | Destabilizing | 0.935 | D | 0.349 | neutral | None | None | None | None | N |
| K/D | 0.7307 | likely_pathogenic | 0.6301 | pathogenic | -0.235 | Destabilizing | 0.149 | N | 0.394 | neutral | None | None | None | None | N |
| K/E | 0.4689 | ambiguous | 0.3531 | ambiguous | -0.249 | Destabilizing | 0.027 | N | 0.342 | neutral | N | 0.46683926 | None | None | N |
| K/F | 0.9008 | likely_pathogenic | 0.8592 | pathogenic | -0.422 | Destabilizing | 0.555 | D | 0.332 | neutral | None | None | None | None | N |
| K/G | 0.5463 | ambiguous | 0.4653 | ambiguous | -0.152 | Destabilizing | 0.149 | N | 0.43 | neutral | None | None | None | None | N |
| K/H | 0.3615 | ambiguous | 0.3071 | benign | -0.23 | Destabilizing | 0.555 | D | 0.337 | neutral | None | None | None | None | N |
| K/I | 0.6743 | likely_pathogenic | 0.6016 | pathogenic | 0.16 | Stabilizing | 0.484 | N | 0.377 | neutral | N | 0.494908509 | None | None | N |
| K/L | 0.6511 | likely_pathogenic | 0.577 | pathogenic | 0.16 | Stabilizing | 0.149 | N | 0.43 | neutral | None | None | None | None | N |
| K/M | 0.5895 | likely_pathogenic | 0.4877 | ambiguous | -0.177 | Destabilizing | 0.791 | D | 0.344 | neutral | None | None | None | None | N |
| K/N | 0.6338 | likely_pathogenic | 0.5365 | ambiguous | -0.125 | Destabilizing | 0.117 | N | 0.347 | neutral | N | 0.487041174 | None | None | N |
| K/P | 0.6903 | likely_pathogenic | 0.622 | pathogenic | 0.114 | Stabilizing | 0.555 | D | 0.379 | neutral | None | None | None | None | N |
| K/Q | 0.2295 | likely_benign | 0.1832 | benign | -0.242 | Destabilizing | 0.062 | N | 0.372 | neutral | N | 0.491140272 | None | None | N |
| K/R | 0.064 | likely_benign | 0.0682 | benign | -0.177 | Destabilizing | None | N | 0.189 | neutral | N | 0.43434284 | None | None | N |
| K/S | 0.6263 | likely_pathogenic | 0.5108 | ambiguous | -0.493 | Destabilizing | 0.149 | N | 0.319 | neutral | None | None | None | None | N |
| K/T | 0.3675 | ambiguous | 0.2786 | benign | -0.394 | Destabilizing | 0.117 | N | 0.399 | neutral | N | 0.421682974 | None | None | N |
| K/V | 0.6254 | likely_pathogenic | 0.5419 | ambiguous | 0.114 | Stabilizing | 0.149 | N | 0.392 | neutral | None | None | None | None | N |
| K/W | 0.7864 | likely_pathogenic | 0.7331 | pathogenic | -0.535 | Destabilizing | 0.935 | D | 0.399 | neutral | None | None | None | None | N |
| K/Y | 0.7503 | likely_pathogenic | 0.6832 | pathogenic | -0.182 | Destabilizing | 0.555 | D | 0.351 | 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.