Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35689 | 107290;107291;107292 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| N2AB | 34048 | 102367;102368;102369 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| N2A | 33121 | 99586;99587;99588 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| N2B | 26624 | 80095;80096;80097 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| Novex-1 | 26749 | 80470;80471;80472 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| Novex-2 | 26816 | 80671;80672;80673 | chr2:178528686;178528685;178528684 | chr2:179393413;179393412;179393411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1451601178  |
-0.004 | 0.324 | N | 0.486 | 0.236 | 0.227934060464 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Q/R | rs1451601178 |
-0.004 | 0.324 | N | 0.486 | 0.236 | 0.227934060464 | gnomAD-4.0.0 | 1.36872E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61917E-05 | 0 | 3.31389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3467 | ambiguous | 0.4043 | ambiguous | -0.58 | Destabilizing | 0.207 | N | 0.503 | neutral | None | None | None | None | N |
| Q/C | 0.7934 | likely_pathogenic | 0.8556 | pathogenic | -0.238 | Destabilizing | 0.981 | D | 0.633 | neutral | None | None | None | None | N |
| Q/D | 0.5682 | likely_pathogenic | 0.6743 | pathogenic | -1.259 | Destabilizing | 0.388 | N | 0.471 | neutral | None | None | None | None | N |
| Q/E | 0.1063 | likely_benign | 0.1204 | benign | -1.137 | Destabilizing | 0.09 | N | 0.443 | neutral | N | 0.481454501 | None | None | N |
| Q/F | 0.782 | likely_pathogenic | 0.8555 | pathogenic | -0.525 | Destabilizing | 0.69 | D | 0.657 | neutral | None | None | None | None | N |
| Q/G | 0.4646 | ambiguous | 0.5462 | ambiguous | -0.926 | Destabilizing | 0.388 | N | 0.593 | neutral | None | None | None | None | N |
| Q/H | 0.2541 | likely_benign | 0.3407 | ambiguous | -0.999 | Destabilizing | 0.001 | N | 0.176 | neutral | N | 0.483534801 | None | None | N |
| Q/I | 0.4313 | ambiguous | 0.5124 | ambiguous | 0.301 | Stabilizing | 0.818 | D | 0.673 | neutral | None | None | None | None | N |
| Q/K | 0.1341 | likely_benign | 0.1567 | benign | -0.223 | Destabilizing | 0.165 | N | 0.49 | neutral | N | 0.480414351 | None | None | N |
| Q/L | 0.2573 | likely_benign | 0.3255 | benign | 0.301 | Stabilizing | 0.324 | N | 0.614 | neutral | N | 0.483534801 | None | None | N |
| Q/M | 0.5157 | ambiguous | 0.5758 | pathogenic | 0.788 | Stabilizing | 0.932 | D | 0.603 | neutral | None | None | None | None | N |
| Q/N | 0.391 | ambiguous | 0.4888 | ambiguous | -0.915 | Destabilizing | 0.241 | N | 0.493 | neutral | None | None | None | None | N |
| Q/P | 0.5716 | likely_pathogenic | 0.6998 | pathogenic | 0.037 | Stabilizing | 0.001 | N | 0.267 | neutral | N | 0.483881518 | None | None | N |
| Q/R | 0.1367 | likely_benign | 0.1601 | benign | -0.238 | Destabilizing | 0.324 | N | 0.486 | neutral | N | 0.482668009 | None | None | N |
| Q/S | 0.3143 | likely_benign | 0.3634 | ambiguous | -0.99 | Destabilizing | 0.207 | N | 0.472 | neutral | None | None | None | None | N |
| Q/T | 0.2326 | likely_benign | 0.269 | benign | -0.678 | Destabilizing | 0.563 | D | 0.551 | neutral | None | None | None | None | N |
| Q/V | 0.3326 | likely_benign | 0.3903 | ambiguous | 0.037 | Stabilizing | 0.563 | D | 0.659 | neutral | None | None | None | None | N |
| Q/W | 0.6919 | likely_pathogenic | 0.7755 | pathogenic | -0.486 | Destabilizing | 0.981 | D | 0.648 | neutral | None | None | None | None | N |
| Q/Y | 0.5803 | likely_pathogenic | 0.6723 | pathogenic | -0.135 | Destabilizing | 0.241 | N | 0.637 | 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.