Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| N2AB | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| N2A | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| N2B | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| Novex-1 | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| Novex-2 | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
| Novex-3 | 105 | 538;539;540 | chr2:178800665;178800664;178800663 | chr2:179665392;179665391;179665390 |
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/H | rs780972429  |
-0.682 | 1.0 | N | 0.615 | 0.347 | 0.350307294319 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | -0.263(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.00341E-04 | None | 0 | 0 | 0 |
| N/H | rs780972429 |
-0.682 | 1.0 | N | 0.615 | 0.347 | 0.350307294319 | gnomAD-4.0.0 | 2.74527E-06 | None | None | None | -0.263(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.33661E-05 | 3.32469E-05 |
| N/K | None | None | 0.999 | N | 0.537 | 0.196 | 0.229924730088 | gnomAD-4.0.0 | 6.86165E-07 | None | None | None | -0.976(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01192E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.307 | likely_benign | 0.3114 | benign | -0.511 | Destabilizing | 0.936 | D | 0.503 | neutral | None | None | None | -0.515(TCAP) | N |
| N/C | 0.6679 | likely_pathogenic | 0.6909 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | -0.463(TCAP) | N |
| N/D | 0.2321 | likely_benign | 0.2251 | benign | 0.291 | Stabilizing | 0.986 | D | 0.437 | neutral | N | 0.464631586 | None | -0.753(TCAP) | N |
| N/E | 0.5434 | ambiguous | 0.5341 | ambiguous | 0.313 | Stabilizing | 0.997 | D | 0.533 | neutral | None | None | None | -0.86(TCAP) | N |
| N/F | 0.7488 | likely_pathogenic | 0.7428 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | -1.041(TCAP) | N |
| N/G | 0.4014 | ambiguous | 0.4109 | ambiguous | -0.734 | Destabilizing | 0.999 | D | 0.43 | neutral | None | None | None | -0.493(TCAP) | N |
| N/H | 0.195 | likely_benign | 0.1978 | benign | -0.526 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.488570868 | None | -0.263(TCAP) | N |
| N/I | 0.3686 | ambiguous | 0.3582 | ambiguous | 0.006 | Stabilizing | 1.0 | D | 0.743 | deleterious | N | 0.46630899 | None | -0.627(TCAP) | N |
| N/K | 0.5599 | ambiguous | 0.5571 | ambiguous | 0.149 | Stabilizing | 0.999 | D | 0.537 | neutral | N | 0.459794143 | None | -0.976(TCAP) | N |
| N/L | 0.3698 | ambiguous | 0.3663 | ambiguous | 0.006 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | -0.627(TCAP) | N |
| N/M | 0.5599 | ambiguous | 0.5521 | ambiguous | 0.143 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | -0.102(TCAP) | N |
| N/P | 0.9028 | likely_pathogenic | 0.9034 | pathogenic | -0.139 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | -0.581(TCAP) | N |
| N/Q | 0.4966 | ambiguous | 0.491 | ambiguous | -0.349 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | -0.773(TCAP) | N |
| N/R | 0.5639 | ambiguous | 0.5543 | ambiguous | 0.191 | Stabilizing | 1.0 | D | 0.624 | neutral | None | None | None | -1.099(TCAP) | N |
| N/S | 0.0926 | likely_benign | 0.0936 | benign | -0.321 | Destabilizing | 0.482 | N | 0.246 | neutral | N | 0.467020121 | None | -0.654(TCAP) | N |
| N/T | 0.1734 | likely_benign | 0.18 | benign | -0.123 | Destabilizing | 0.982 | D | 0.493 | neutral | N | 0.442967907 | None | -0.682(TCAP) | N |
| N/V | 0.3343 | likely_benign | 0.3232 | benign | -0.139 | Destabilizing | 0.992 | D | 0.734 | prob.delet. | None | None | None | -0.581(TCAP) | N |
| N/W | 0.937 | likely_pathogenic | 0.9368 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -1.237(TCAP) | N |
| N/Y | 0.3243 | likely_benign | 0.3196 | benign | -0.396 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.495287295 | None | -0.838(TCAP) | 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.