Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9352 | 28279;28280;28281 | chr2:178711182;178711181;178711180 | chr2:179575909;179575908;179575907 |
| N2AB | 9035 | 27328;27329;27330 | chr2:178711182;178711181;178711180 | chr2:179575909;179575908;179575907 |
| N2A | 8108 | 24547;24548;24549 | chr2:178711182;178711181;178711180 | chr2:179575909;179575908;179575907 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs776487201  |
-0.046 | 0.801 | None | 0.295 | 0.172 | 0.781844667515 | gnomAD-2.1.1 | 1.40515E-04 | None | None | None | None | N | None | 0 | 9.84879E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65344E-04 |
| L/S | rs776487201 |
-0.046 | 0.801 | None | 0.295 | 0.172 | 0.781844667515 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs776487201 |
-0.046 | 0.801 | None | 0.295 | 0.172 | 0.781844667515 | gnomAD-4.0.0 | 2.41676E-05 | None | None | None | None | N | None | 0 | 6.16852E-04 | None | 0 | 0 | None | 0 | 0 | 8.47597E-07 | 0 | 1.60082E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1305 | likely_benign | 0.1439 | benign | -0.549 | Destabilizing | 0.525 | D | 0.274 | neutral | None | None | None | None | N |
| L/C | 0.4244 | ambiguous | 0.4546 | ambiguous | -0.703 | Destabilizing | 0.998 | D | 0.245 | neutral | None | None | None | None | N |
| L/D | 0.3923 | ambiguous | 0.4616 | ambiguous | 0.186 | Stabilizing | 0.007 | N | 0.209 | neutral | None | None | None | None | N |
| L/E | 0.1738 | likely_benign | 0.1981 | benign | 0.108 | Stabilizing | 0.067 | N | 0.243 | neutral | None | None | None | None | N |
| L/F | 0.1012 | likely_benign | 0.1097 | benign | -0.526 | Destabilizing | 0.934 | D | 0.211 | neutral | None | None | None | None | N |
| L/G | 0.3327 | likely_benign | 0.3717 | ambiguous | -0.701 | Destabilizing | 0.842 | D | 0.323 | neutral | None | None | None | None | N |
| L/H | 0.1115 | likely_benign | 0.1227 | benign | 0.022 | Stabilizing | 0.998 | D | 0.233 | neutral | None | None | None | None | N |
| L/I | 0.0628 | likely_benign | 0.0665 | benign | -0.271 | Destabilizing | 0.012 | N | 0.248 | neutral | None | None | None | None | N |
| L/K | 0.1355 | likely_benign | 0.1553 | benign | -0.229 | Destabilizing | 0.842 | D | 0.309 | neutral | None | None | None | None | N |
| L/M | 0.1033 | likely_benign | 0.1073 | benign | -0.439 | Destabilizing | 0.949 | D | 0.241 | neutral | None | None | None | None | N |
| L/N | 0.1932 | likely_benign | 0.2286 | benign | -0.107 | Destabilizing | 0.949 | D | 0.295 | neutral | None | None | None | None | N |
| L/P | 0.5525 | ambiguous | 0.6222 | pathogenic | -0.332 | Destabilizing | 0.991 | D | 0.294 | neutral | None | None | None | None | N |
| L/Q | 0.0825 | likely_benign | 0.0872 | benign | -0.268 | Destabilizing | 0.949 | D | 0.281 | neutral | None | None | None | None | N |
| L/R | 0.0907 | likely_benign | 0.1019 | benign | 0.238 | Stabilizing | 0.949 | D | 0.275 | neutral | None | None | None | None | N |
| L/S | 0.1153 | likely_benign | 0.1247 | benign | -0.601 | Destabilizing | 0.801 | D | 0.295 | neutral | None | None | None | None | N |
| L/T | 0.1026 | likely_benign | 0.1124 | benign | -0.565 | Destabilizing | 0.842 | D | 0.267 | neutral | None | None | None | None | N |
| L/V | 0.0723 | likely_benign | 0.0761 | benign | -0.332 | Destabilizing | 0.012 | N | 0.183 | neutral | None | None | None | None | N |
| L/W | 0.1587 | likely_benign | 0.1786 | benign | -0.542 | Destabilizing | 0.998 | D | 0.314 | neutral | None | None | None | None | N |
| L/Y | 0.2369 | likely_benign | 0.2724 | benign | -0.297 | Destabilizing | 0.991 | D | 0.233 | 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.