Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27335 | 82228;82229;82230 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| N2AB | 25694 | 77305;77306;77307 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| N2A | 24767 | 74524;74525;74526 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| N2B | 18270 | 55033;55034;55035 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| Novex-1 | 18395 | 55408;55409;55410 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| Novex-2 | 18462 | 55609;55610;55611 | chr2:178564129;178564128;178564127 | chr2:179428856;179428855;179428854 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs1211654508  |
-2.44 | 0.055 | N | 0.617 | 0.278 | 0.632689300127 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/G | rs1211654508 |
-2.44 | 0.055 | N | 0.617 | 0.278 | 0.632689300127 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8584E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0962 | likely_benign | 0.1005 | benign | -1.81 | Destabilizing | 0.012 | N | 0.468 | neutral | N | 0.510297328 | None | None | N |
| V/C | 0.4798 | ambiguous | 0.5132 | ambiguous | -1.251 | Destabilizing | 0.628 | D | 0.625 | neutral | None | None | None | None | N |
| V/D | 0.3072 | likely_benign | 0.3498 | ambiguous | -2.182 | Highly Destabilizing | 0.171 | N | 0.655 | neutral | N | 0.495442927 | None | None | N |
| V/E | 0.2297 | likely_benign | 0.2471 | benign | -2.009 | Highly Destabilizing | 0.072 | N | 0.61 | neutral | None | None | None | None | N |
| V/F | 0.1158 | likely_benign | 0.1252 | benign | -1.013 | Destabilizing | 0.093 | N | 0.654 | neutral | N | 0.510470686 | None | None | N |
| V/G | 0.1827 | likely_benign | 0.2127 | benign | -2.294 | Highly Destabilizing | 0.055 | N | 0.617 | neutral | N | 0.489113051 | None | None | N |
| V/H | 0.3061 | likely_benign | 0.3353 | benign | -2.022 | Highly Destabilizing | 0.864 | D | 0.648 | neutral | None | None | None | None | N |
| V/I | 0.062 | likely_benign | 0.0632 | benign | -0.488 | Destabilizing | None | N | 0.243 | neutral | N | 0.419907397 | None | None | N |
| V/K | 0.265 | likely_benign | 0.2937 | benign | -1.463 | Destabilizing | 0.072 | N | 0.601 | neutral | None | None | None | None | N |
| V/L | 0.1097 | likely_benign | 0.1174 | benign | -0.488 | Destabilizing | None | N | 0.323 | neutral | N | 0.472683089 | None | None | N |
| V/M | 0.0866 | likely_benign | 0.0878 | benign | -0.523 | Destabilizing | 0.214 | N | 0.643 | neutral | None | None | None | None | N |
| V/N | 0.159 | likely_benign | 0.186 | benign | -1.627 | Destabilizing | 0.214 | N | 0.657 | neutral | None | None | None | None | N |
| V/P | 0.8305 | likely_pathogenic | 0.8815 | pathogenic | -0.899 | Destabilizing | 0.356 | N | 0.633 | neutral | None | None | None | None | N |
| V/Q | 0.2203 | likely_benign | 0.2319 | benign | -1.539 | Destabilizing | 0.356 | N | 0.608 | neutral | None | None | None | None | N |
| V/R | 0.211 | likely_benign | 0.236 | benign | -1.246 | Destabilizing | 0.214 | N | 0.651 | neutral | None | None | None | None | N |
| V/S | 0.1076 | likely_benign | 0.1194 | benign | -2.226 | Highly Destabilizing | 0.038 | N | 0.594 | neutral | None | None | None | None | N |
| V/T | 0.0761 | likely_benign | 0.0768 | benign | -1.927 | Destabilizing | None | N | 0.297 | neutral | None | None | None | None | N |
| V/W | 0.5684 | likely_pathogenic | 0.5859 | pathogenic | -1.501 | Destabilizing | 0.864 | D | 0.666 | neutral | None | None | None | None | N |
| V/Y | 0.3173 | likely_benign | 0.3525 | ambiguous | -1.115 | Destabilizing | 0.356 | N | 0.639 | 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.