Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8399 | 25420;25421;25422 | chr2:178717679;178717678;178717677 | chr2:179582406;179582405;179582404 |
| N2AB | 8082 | 24469;24470;24471 | chr2:178717679;178717678;178717677 | chr2:179582406;179582405;179582404 |
| N2A | 7155 | 21688;21689;21690 | chr2:178717679;178717678;178717677 | chr2:179582406;179582405;179582404 |
| 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/I | rs375788467  |
None | 0.802 | N | 0.265 | 0.158 | 0.415438038341 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85945E-06 | 0 | 0 |
| L/P | rs2077698375 |
None | 0.028 | N | 0.211 | 0.294 | 0.653004105721 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| L/V | rs375788467 |
-0.218 | 0.636 | N | 0.248 | 0.15 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 1.24172E-04 | 8.51E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs375788467 |
-0.218 | 0.636 | N | 0.248 | 0.15 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20726E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs375788467 |
-0.218 | 0.636 | N | 0.248 | 0.15 | None | gnomAD-4.0.0 | 1.40987E-05 | None | None | None | None | N | None | 1.35391E-04 | 5.08578E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1654 | likely_benign | 0.1776 | benign | -1.014 | Destabilizing | 0.924 | D | 0.311 | neutral | None | None | None | None | N |
| L/C | 0.4812 | ambiguous | 0.489 | ambiguous | -0.72 | Destabilizing | 1.0 | D | 0.39 | neutral | None | None | None | None | N |
| L/D | 0.6217 | likely_pathogenic | 0.6338 | pathogenic | -0.202 | Destabilizing | 0.085 | N | 0.254 | neutral | None | None | None | None | N |
| L/E | 0.2261 | likely_benign | 0.2589 | benign | -0.208 | Destabilizing | 0.916 | D | 0.372 | neutral | None | None | None | None | N |
| L/F | 0.1503 | likely_benign | 0.1522 | benign | -0.586 | Destabilizing | 0.969 | D | 0.356 | neutral | N | 0.497329031 | None | None | N |
| L/G | 0.5144 | ambiguous | 0.5294 | ambiguous | -1.279 | Destabilizing | 0.967 | D | 0.382 | neutral | None | None | None | None | N |
| L/H | 0.209 | likely_benign | 0.2315 | benign | -0.346 | Destabilizing | 0.985 | D | 0.391 | neutral | D | 0.534808983 | None | None | N |
| L/I | 0.0972 | likely_benign | 0.0942 | benign | -0.385 | Destabilizing | 0.802 | D | 0.265 | neutral | N | 0.507411738 | None | None | N |
| L/K | 0.2047 | likely_benign | 0.233 | benign | -0.609 | Destabilizing | 0.303 | N | 0.346 | neutral | None | None | None | None | N |
| L/M | 0.1146 | likely_benign | 0.1107 | benign | -0.49 | Destabilizing | 0.987 | D | 0.405 | neutral | None | None | None | None | N |
| L/N | 0.3874 | ambiguous | 0.3846 | ambiguous | -0.553 | Destabilizing | 0.99 | D | 0.414 | neutral | None | None | None | None | N |
| L/P | 0.107 | likely_benign | 0.1157 | benign | -0.562 | Destabilizing | 0.028 | N | 0.211 | neutral | N | 0.435394137 | None | None | N |
| L/Q | 0.1073 | likely_benign | 0.1259 | benign | -0.667 | Destabilizing | 0.525 | D | 0.265 | neutral | None | None | None | None | N |
| L/R | 0.1508 | likely_benign | 0.1835 | benign | -0.094 | Destabilizing | 0.969 | D | 0.403 | neutral | N | 0.486977751 | None | None | N |
| L/S | 0.2348 | likely_benign | 0.2501 | benign | -1.126 | Destabilizing | 0.967 | D | 0.365 | neutral | None | None | None | None | N |
| L/T | 0.2058 | likely_benign | 0.2175 | benign | -1.014 | Destabilizing | 0.947 | D | 0.312 | neutral | None | None | None | None | N |
| L/V | 0.0927 | likely_benign | 0.0934 | benign | -0.562 | Destabilizing | 0.636 | D | 0.248 | neutral | N | 0.513182917 | None | None | N |
| L/W | 0.2575 | likely_benign | 0.2883 | benign | -0.646 | Destabilizing | 0.241 | N | 0.279 | neutral | None | None | None | None | N |
| L/Y | 0.3622 | ambiguous | 0.3749 | ambiguous | -0.407 | Destabilizing | 0.828 | D | 0.404 | 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.