Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23678 | 71257;71258;71259 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| N2AB | 22037 | 66334;66335;66336 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| N2A | 21110 | 63553;63554;63555 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| N2B | 14613 | 44062;44063;44064 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| Novex-1 | 14738 | 44437;44438;44439 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| Novex-2 | 14805 | 44638;44639;44640 | chr2:178575100;178575099;178575098 | chr2:179439827;179439826;179439825 |
| 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/E | rs778124569  |
0.195 | 0.992 | N | 0.453 | 0.297 | 0.181679512989 | gnomAD-2.1.1 | 5.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.60065E-04 | None | 0 | 2.35E-05 | 0 |
| Q/E | rs778124569 |
0.195 | 0.992 | N | 0.453 | 0.297 | 0.181679512989 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07039E-04 | 0 |
| Q/E | rs778124569 |
0.195 | 0.992 | N | 0.453 | 0.297 | 0.181679512989 | gnomAD-4.0.0 | 3.9674E-05 | None | None | None | None | N | None | 0 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 2.28899E-05 | 3.62398E-04 | 4.80554E-05 |
| Q/P | None | None | 0.999 | N | 0.512 | 0.526 | 0.231231049324 | gnomAD-4.0.0 | 1.5925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2031 | likely_benign | 0.198 | benign | -0.099 | Destabilizing | 0.997 | D | 0.463 | neutral | None | None | None | None | N |
| Q/C | 0.8251 | likely_pathogenic | 0.8418 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| Q/D | 0.4758 | ambiguous | 0.4575 | ambiguous | -0.253 | Destabilizing | 0.997 | D | 0.501 | neutral | None | None | None | None | N |
| Q/E | 0.1143 | likely_benign | 0.1091 | benign | -0.315 | Destabilizing | 0.992 | D | 0.453 | neutral | N | 0.410414682 | None | None | N |
| Q/F | 0.8113 | likely_pathogenic | 0.8353 | pathogenic | -0.559 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| Q/G | 0.2733 | likely_benign | 0.2874 | benign | -0.172 | Destabilizing | 0.997 | D | 0.403 | neutral | None | None | None | None | N |
| Q/H | 0.2992 | likely_benign | 0.3429 | ambiguous | 0.013 | Stabilizing | 0.999 | D | 0.577 | neutral | N | 0.463403805 | None | None | N |
| Q/I | 0.4907 | ambiguous | 0.493 | ambiguous | -0.002 | Destabilizing | 0.999 | D | 0.598 | neutral | None | None | None | None | N |
| Q/K | 0.1765 | likely_benign | 0.1649 | benign | -0.082 | Destabilizing | 0.997 | D | 0.485 | neutral | N | 0.410916114 | None | None | N |
| Q/L | 0.1676 | likely_benign | 0.1764 | benign | -0.002 | Destabilizing | 0.997 | D | 0.403 | neutral | N | 0.47129257 | None | None | N |
| Q/M | 0.3572 | ambiguous | 0.3597 | ambiguous | -0.015 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| Q/N | 0.2754 | likely_benign | 0.2981 | benign | -0.33 | Destabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| Q/P | 0.1211 | likely_benign | 0.1219 | benign | -0.014 | Destabilizing | 0.999 | D | 0.512 | neutral | N | 0.404104785 | None | None | N |
| Q/R | 0.2065 | likely_benign | 0.2029 | benign | 0.103 | Stabilizing | 0.997 | D | 0.507 | neutral | N | 0.422845262 | None | None | N |
| Q/S | 0.1888 | likely_benign | 0.1948 | benign | -0.305 | Destabilizing | 0.997 | D | 0.485 | neutral | None | None | None | None | N |
| Q/T | 0.1868 | likely_benign | 0.1831 | benign | -0.257 | Destabilizing | 0.999 | D | 0.46 | neutral | None | None | None | None | N |
| Q/V | 0.302 | likely_benign | 0.2984 | benign | -0.014 | Destabilizing | 0.999 | D | 0.443 | neutral | None | None | None | None | N |
| Q/W | 0.7709 | likely_pathogenic | 0.7748 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.588 | neutral | None | None | None | None | N |
| Q/Y | 0.6403 | likely_pathogenic | 0.671 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.502 | 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.