Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9305 | 28138;28139;28140 | chr2:178711323;178711322;178711321 | chr2:179576050;179576049;179576048 |
| N2AB | 8988 | 27187;27188;27189 | chr2:178711323;178711322;178711321 | chr2:179576050;179576049;179576048 |
| N2A | 8061 | 24406;24407;24408 | chr2:178711323;178711322;178711321 | chr2:179576050;179576049;179576048 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | None | None | 0.954 | N | 0.41 | 0.321 | 0.631068764991 | gnomAD-4.0.0 | 6.87758E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17697E-05 | 0 |
| R/Q | rs397517527  |
0.235 | 0.958 | N | 0.383 | 0.161 | 0.216624796971 | gnomAD-2.1.1 | 1.95387E-04 | None | None | None | None | N | None | 0 | 1.27001E-03 | None | 0 | 0 | None | 3.37E-05 | None | 0 | 3.58E-05 | 0 |
| R/Q | rs397517527 |
0.235 | 0.958 | N | 0.383 | 0.161 | 0.216624796971 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs397517527 |
0.235 | 0.958 | N | 0.383 | 0.161 | 0.216624796971 | gnomAD-4.0.0 | 4.17173E-05 | None | None | None | None | N | None | 0 | 8.42318E-04 | None | 0 | 0 | None | 1.56622E-05 | 0 | 9.36005E-06 | 2.22762E-05 | 4.82532E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4927 | ambiguous | 0.46 | ambiguous | -0.618 | Destabilizing | 0.525 | D | 0.383 | neutral | None | None | None | None | N |
| R/C | 0.2738 | likely_benign | 0.2594 | benign | -0.465 | Destabilizing | 0.998 | D | 0.368 | neutral | None | None | None | None | N |
| R/D | 0.7447 | likely_pathogenic | 0.7259 | pathogenic | -0.055 | Destabilizing | 0.915 | D | 0.391 | neutral | None | None | None | None | N |
| R/E | 0.4427 | ambiguous | 0.4038 | ambiguous | 0.04 | Stabilizing | 0.842 | D | 0.322 | neutral | None | None | None | None | N |
| R/F | 0.5989 | likely_pathogenic | 0.5684 | pathogenic | -0.62 | Destabilizing | 0.991 | D | 0.369 | neutral | None | None | None | None | N |
| R/G | 0.3006 | likely_benign | 0.2843 | benign | -0.896 | Destabilizing | 0.013 | N | 0.178 | neutral | N | 0.498316536 | None | None | N |
| R/H | 0.1266 | likely_benign | 0.1147 | benign | -1.273 | Destabilizing | 0.991 | D | 0.406 | neutral | None | None | None | None | N |
| R/I | 0.3569 | ambiguous | 0.3241 | benign | 0.113 | Stabilizing | 0.991 | D | 0.39 | neutral | None | None | None | None | N |
| R/K | 0.1117 | likely_benign | 0.1156 | benign | -0.626 | Destabilizing | 0.029 | N | 0.139 | neutral | None | None | None | None | N |
| R/L | 0.3063 | likely_benign | 0.2804 | benign | 0.113 | Stabilizing | 0.954 | D | 0.41 | neutral | N | 0.483428285 | None | None | N |
| R/M | 0.3814 | ambiguous | 0.3555 | ambiguous | -0.101 | Destabilizing | 0.991 | D | 0.398 | neutral | None | None | None | None | N |
| R/N | 0.6163 | likely_pathogenic | 0.5925 | pathogenic | -0.028 | Destabilizing | 0.842 | D | 0.354 | neutral | None | None | None | None | N |
| R/P | 0.7834 | likely_pathogenic | 0.8244 | pathogenic | -0.11 | Destabilizing | 0.996 | D | 0.376 | neutral | N | 0.51545974 | None | None | N |
| R/Q | 0.1244 | likely_benign | 0.1081 | benign | -0.26 | Destabilizing | 0.958 | D | 0.383 | neutral | N | 0.502405776 | None | None | N |
| R/S | 0.5034 | ambiguous | 0.4688 | ambiguous | -0.729 | Destabilizing | 0.842 | D | 0.383 | neutral | None | None | None | None | N |
| R/T | 0.3298 | likely_benign | 0.2941 | benign | -0.468 | Destabilizing | 0.915 | D | 0.409 | neutral | None | None | None | None | N |
| R/V | 0.4486 | ambiguous | 0.4138 | ambiguous | -0.11 | Destabilizing | 0.974 | D | 0.368 | neutral | None | None | None | None | N |
| R/W | 0.2205 | likely_benign | 0.2153 | benign | -0.354 | Destabilizing | 0.998 | D | 0.387 | neutral | None | None | None | None | N |
| R/Y | 0.4675 | ambiguous | 0.4328 | ambiguous | -0.028 | Destabilizing | 0.991 | D | 0.383 | 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.