Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28041 | 84346;84347;84348 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| N2AB | 26400 | 79423;79424;79425 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| N2A | 25473 | 76642;76643;76644 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| N2B | 18976 | 57151;57152;57153 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| Novex-1 | 19101 | 57526;57527;57528 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| Novex-2 | 19168 | 57727;57728;57729 | chr2:178562011;178562010;178562009 | chr2:179426738;179426737;179426736 |
| 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/V | rs900858263  |
-0.028 | 0.061 | N | 0.251 | 0.193 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs900858263 |
-0.028 | 0.061 | N | 0.251 | 0.193 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs900858263 |
-0.028 | 0.061 | N | 0.251 | 0.193 | None | gnomAD-4.0.0 | 8.05773E-06 | None | None | None | None | I | None | 1.33533E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01718E-05 | 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 | 0.5157 | ambiguous | 0.5151 | ambiguous | -0.826 | Destabilizing | 0.999 | D | 0.455 | neutral | None | None | None | None | I |
| A/D | 0.7639 | likely_pathogenic | 0.8145 | pathogenic | -0.386 | Destabilizing | 0.996 | D | 0.593 | neutral | N | 0.498573707 | None | None | I |
| A/E | 0.6462 | likely_pathogenic | 0.7003 | pathogenic | -0.537 | Destabilizing | 0.997 | D | 0.467 | neutral | None | None | None | None | I |
| A/F | 0.4163 | ambiguous | 0.4704 | ambiguous | -0.889 | Destabilizing | 0.1 | N | 0.473 | neutral | None | None | None | None | I |
| A/G | 0.2479 | likely_benign | 0.2656 | benign | -0.209 | Destabilizing | 0.986 | D | 0.39 | neutral | N | 0.50329374 | None | None | I |
| A/H | 0.6962 | likely_pathogenic | 0.729 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
| A/I | 0.2692 | likely_benign | 0.2772 | benign | -0.391 | Destabilizing | 0.17 | N | 0.37 | neutral | None | None | None | None | I |
| A/K | 0.7461 | likely_pathogenic | 0.7986 | pathogenic | -0.466 | Destabilizing | 0.997 | D | 0.473 | neutral | None | None | None | None | I |
| A/L | 0.2611 | likely_benign | 0.2868 | benign | -0.391 | Destabilizing | 0.759 | D | 0.441 | neutral | None | None | None | None | I |
| A/M | 0.2975 | likely_benign | 0.32 | benign | -0.501 | Destabilizing | 0.991 | D | 0.487 | neutral | None | None | None | None | I |
| A/N | 0.5675 | likely_pathogenic | 0.5897 | pathogenic | -0.2 | Destabilizing | 0.997 | D | 0.591 | neutral | None | None | None | None | I |
| A/P | 0.867 | likely_pathogenic | 0.8994 | pathogenic | -0.304 | Destabilizing | 0.996 | D | 0.49 | neutral | D | 0.528034267 | None | None | I |
| A/Q | 0.6079 | likely_pathogenic | 0.6494 | pathogenic | -0.456 | Destabilizing | 0.997 | D | 0.477 | neutral | None | None | None | None | I |
| A/R | 0.6407 | likely_pathogenic | 0.7081 | pathogenic | -0.055 | Destabilizing | 0.997 | D | 0.484 | neutral | None | None | None | None | I |
| A/S | 0.1303 | likely_benign | 0.1288 | benign | -0.4 | Destabilizing | 0.959 | D | 0.417 | neutral | N | 0.493570049 | None | None | I |
| A/T | 0.1227 | likely_benign | 0.1294 | benign | -0.476 | Destabilizing | 0.92 | D | 0.391 | neutral | N | 0.495278343 | None | None | I |
| A/V | 0.126 | likely_benign | 0.1268 | benign | -0.304 | Destabilizing | 0.061 | N | 0.251 | neutral | N | 0.454636046 | None | None | I |
| A/W | 0.8747 | likely_pathogenic | 0.9096 | pathogenic | -0.989 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | I |
| A/Y | 0.6783 | likely_pathogenic | 0.7247 | pathogenic | -0.667 | Destabilizing | 0.964 | D | 0.589 | neutral | None | None | None | None | I |
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.