Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28995 | 87208;87209;87210 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| N2AB | 27354 | 82285;82286;82287 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| N2A | 26427 | 79504;79505;79506 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| N2B | 19930 | 60013;60014;60015 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| Novex-1 | 20055 | 60388;60389;60390 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| Novex-2 | 20122 | 60589;60590;60591 | chr2:178558476;178558475;178558474 | chr2:179423203;179423202;179423201 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs774191975  |
-1.056 | None | N | 0.124 | 0.195 | None | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.17397E-04 | 0 |
| A/T | rs774191975 |
-1.056 | None | N | 0.124 | 0.195 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02881E-04 | 0 | 0 |
| A/T | rs774191975 |
-1.056 | None | N | 0.124 | 0.195 | None | gnomAD-4.0.0 | 6.19691E-05 | None | None | None | None | N | None | 0 | 1.6675E-05 | None | 0 | 0 | None | 1.5623E-05 | 0 | 7.54338E-05 | 0 | 1.44092E-04 |
| A/V | rs754768962 |
-0.058 | None | N | 0.117 | 0.14 | 0.267299060538 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | rs754768962 |
-0.058 | None | N | 0.117 | 0.14 | 0.267299060538 | gnomAD-4.0.0 | 3.18243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2792 | likely_benign | 0.2889 | benign | -0.626 | Destabilizing | 0.356 | N | 0.523 | neutral | None | None | None | None | N |
| A/D | 0.473 | ambiguous | 0.5107 | ambiguous | -1.983 | Destabilizing | 0.136 | N | 0.528 | neutral | None | None | None | None | N |
| A/E | 0.3841 | ambiguous | 0.4196 | ambiguous | -1.863 | Destabilizing | 0.106 | N | 0.482 | neutral | N | 0.435766992 | None | None | N |
| A/F | 0.2937 | likely_benign | 0.3018 | benign | -0.798 | Destabilizing | 0.214 | N | 0.561 | neutral | None | None | None | None | N |
| A/G | 0.1303 | likely_benign | 0.138 | benign | -1.414 | Destabilizing | 0.047 | N | 0.38 | neutral | N | 0.406657593 | None | None | N |
| A/H | 0.5488 | ambiguous | 0.5732 | pathogenic | -1.921 | Destabilizing | 0.628 | D | 0.513 | neutral | None | None | None | None | N |
| A/I | 0.1104 | likely_benign | 0.1138 | benign | 0.017 | Stabilizing | 0.002 | N | 0.442 | neutral | None | None | None | None | N |
| A/K | 0.5951 | likely_pathogenic | 0.628 | pathogenic | -1.237 | Destabilizing | 0.072 | N | 0.477 | neutral | None | None | None | None | N |
| A/L | 0.1078 | likely_benign | 0.1195 | benign | 0.017 | Stabilizing | 0.007 | N | 0.39 | neutral | None | None | None | None | N |
| A/M | 0.1424 | likely_benign | 0.1525 | benign | 0.127 | Stabilizing | 0.214 | N | 0.532 | neutral | None | None | None | None | N |
| A/N | 0.2832 | likely_benign | 0.303 | benign | -1.203 | Destabilizing | 0.136 | N | 0.553 | neutral | None | None | None | None | N |
| A/P | 0.4797 | ambiguous | 0.5577 | ambiguous | -0.284 | Destabilizing | 0.106 | N | 0.543 | neutral | N | 0.434340053 | None | None | N |
| A/Q | 0.4093 | ambiguous | 0.4421 | ambiguous | -1.144 | Destabilizing | 0.628 | D | 0.555 | neutral | None | None | None | None | N |
| A/R | 0.5345 | ambiguous | 0.575 | pathogenic | -1.172 | Destabilizing | 0.136 | N | 0.571 | neutral | None | None | None | None | N |
| A/S | 0.0877 | likely_benign | 0.0887 | benign | -1.551 | Destabilizing | 0.012 | N | 0.357 | neutral | N | 0.407366882 | None | None | N |
| A/T | 0.0662 | likely_benign | 0.0672 | benign | -1.332 | Destabilizing | None | N | 0.124 | neutral | N | 0.359807796 | None | None | N |
| A/V | 0.058 | likely_benign | 0.0592 | benign | -0.284 | Destabilizing | None | N | 0.117 | neutral | N | 0.344705057 | None | None | N |
| A/W | 0.7686 | likely_pathogenic | 0.7864 | pathogenic | -1.53 | Destabilizing | 0.864 | D | 0.551 | neutral | None | None | None | None | N |
| A/Y | 0.517 | ambiguous | 0.5198 | ambiguous | -0.985 | Destabilizing | 0.356 | N | 0.548 | 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.