Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18157 | 54694;54695;54696 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| N2AB | 16516 | 49771;49772;49773 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| N2A | 15589 | 46990;46991;46992 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| N2B | 9092 | 27499;27500;27501 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| Novex-1 | 9217 | 27874;27875;27876 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| Novex-2 | 9284 | 28075;28076;28077 | chr2:178604218;178604217;178604216 | chr2:179468945;179468944;179468943 |
| 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/N | rs779495049  |
0.215 | 0.842 | N | 0.421 | 0.101 | 0.178374595973 | gnomAD-2.1.1 | 2.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.5E-05 | 0 |
| K/N | rs779495049 |
0.215 | 0.842 | N | 0.421 | 0.101 | 0.178374595973 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs779495049 |
0.215 | 0.842 | N | 0.421 | 0.101 | 0.178374595973 | gnomAD-4.0.0 | 9.3162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.95376E-04 | 9.33781E-06 | 0 | 1.60514E-05 |
| K/R | rs1177698490 |
0.177 | 0.842 | N | 0.423 | 0.174 | 0.326616659874 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1177698490 |
0.177 | 0.842 | N | 0.423 | 0.174 | 0.326616659874 | gnomAD-4.0.0 | 6.57947E-06 | None | None | None | None | N | None | 0 | 6.55566E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2539 | likely_benign | 0.2686 | benign | -0.175 | Destabilizing | 0.876 | D | 0.403 | neutral | None | None | None | None | N |
| K/C | 0.6488 | likely_pathogenic | 0.6533 | pathogenic | -0.242 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| K/D | 0.5627 | ambiguous | 0.5726 | pathogenic | 0.041 | Stabilizing | 0.022 | N | 0.37 | neutral | None | None | None | None | N |
| K/E | 0.2024 | likely_benign | 0.1988 | benign | 0.07 | Stabilizing | 0.029 | N | 0.12 | neutral | N | 0.40545994 | None | None | N |
| K/F | 0.7631 | likely_pathogenic | 0.7513 | pathogenic | -0.219 | Destabilizing | 0.994 | D | 0.539 | neutral | None | None | None | None | N |
| K/G | 0.4655 | ambiguous | 0.4594 | ambiguous | -0.439 | Destabilizing | 0.935 | D | 0.421 | neutral | None | None | None | None | N |
| K/H | 0.339 | likely_benign | 0.3408 | ambiguous | -0.792 | Destabilizing | 0.994 | D | 0.423 | neutral | None | None | None | None | N |
| K/I | 0.2936 | likely_benign | 0.3066 | benign | 0.46 | Stabilizing | 0.991 | D | 0.567 | neutral | N | 0.496348517 | None | None | N |
| K/L | 0.3383 | likely_benign | 0.3435 | ambiguous | 0.46 | Stabilizing | 0.935 | D | 0.499 | neutral | None | None | None | None | N |
| K/M | 0.2261 | likely_benign | 0.2239 | benign | 0.393 | Stabilizing | 0.998 | D | 0.419 | neutral | None | None | None | None | N |
| K/N | 0.4128 | ambiguous | 0.4146 | ambiguous | 0.113 | Stabilizing | 0.842 | D | 0.421 | neutral | N | 0.463969526 | None | None | N |
| K/P | 0.4282 | ambiguous | 0.4794 | ambiguous | 0.278 | Stabilizing | 0.994 | D | 0.488 | neutral | None | None | None | None | N |
| K/Q | 0.1518 | likely_benign | 0.1593 | benign | -0.111 | Destabilizing | 0.842 | D | 0.5 | neutral | N | 0.48669167 | None | None | N |
| K/R | 0.0833 | likely_benign | 0.0823 | benign | -0.164 | Destabilizing | 0.842 | D | 0.423 | neutral | N | 0.46810591 | None | None | N |
| K/S | 0.3849 | ambiguous | 0.3902 | ambiguous | -0.476 | Destabilizing | 0.876 | D | 0.384 | neutral | None | None | None | None | N |
| K/T | 0.1357 | likely_benign | 0.1447 | benign | -0.279 | Destabilizing | 0.915 | D | 0.467 | neutral | N | 0.442111387 | None | None | N |
| K/V | 0.2512 | likely_benign | 0.2668 | benign | 0.278 | Stabilizing | 0.981 | D | 0.506 | neutral | None | None | None | None | N |
| K/W | 0.8033 | likely_pathogenic | 0.7917 | pathogenic | -0.129 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| K/Y | 0.6429 | likely_pathogenic | 0.6306 | pathogenic | 0.198 | Stabilizing | 0.994 | D | 0.536 | 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.