Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26731 | 80416;80417;80418 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| N2AB | 25090 | 75493;75494;75495 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| N2A | 24163 | 72712;72713;72714 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| N2B | 17666 | 53221;53222;53223 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| Novex-1 | 17791 | 53596;53597;53598 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| Novex-2 | 17858 | 53797;53798;53799 | chr2:178565941;178565940;178565939 | chr2:179430668;179430667;179430666 |
| 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/D | rs1410996977  |
None | 0.884 | N | 0.451 | 0.312 | 0.487772906946 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs1410996977 |
None | 0.884 | N | 0.451 | 0.312 | 0.487772906946 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 6.56168E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1451227084 |
-0.173 | 0.939 | D | 0.439 | 0.3 | 0.302793454619 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | None | None | 0.028 | N | 0.249 | 0.098 | 0.141422826196 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4191 | ambiguous | 0.489 | ambiguous | -0.799 | Destabilizing | 0.996 | D | 0.436 | neutral | None | None | None | None | N |
| A/D | 0.7451 | likely_pathogenic | 0.8137 | pathogenic | -0.836 | Destabilizing | 0.884 | D | 0.451 | neutral | N | 0.491620274 | None | None | N |
| A/E | 0.6426 | likely_pathogenic | 0.7272 | pathogenic | -0.964 | Destabilizing | 0.742 | D | 0.377 | neutral | None | None | None | None | N |
| A/F | 0.4512 | ambiguous | 0.5136 | ambiguous | -1.156 | Destabilizing | 0.02 | N | 0.357 | neutral | None | None | None | None | N |
| A/G | 0.1888 | likely_benign | 0.2127 | benign | -0.852 | Destabilizing | 0.472 | N | 0.391 | neutral | N | 0.507379161 | None | None | N |
| A/H | 0.6678 | likely_pathogenic | 0.7378 | pathogenic | -0.866 | Destabilizing | 0.996 | D | 0.521 | neutral | None | None | None | None | N |
| A/I | 0.2393 | likely_benign | 0.2856 | benign | -0.59 | Destabilizing | 0.835 | D | 0.397 | neutral | None | None | None | None | N |
| A/K | 0.8194 | likely_pathogenic | 0.8694 | pathogenic | -0.988 | Destabilizing | 0.742 | D | 0.375 | neutral | None | None | None | None | N |
| A/L | 0.1993 | likely_benign | 0.2259 | benign | -0.59 | Destabilizing | 0.59 | D | 0.388 | neutral | None | None | None | None | N |
| A/M | 0.2257 | likely_benign | 0.2616 | benign | -0.459 | Destabilizing | 0.953 | D | 0.469 | neutral | None | None | None | None | N |
| A/N | 0.3444 | ambiguous | 0.4193 | ambiguous | -0.62 | Destabilizing | 0.91 | D | 0.479 | neutral | None | None | None | None | N |
| A/P | 0.9257 | likely_pathogenic | 0.923 | pathogenic | -0.6 | Destabilizing | 0.939 | D | 0.439 | neutral | D | 0.522289898 | None | None | N |
| A/Q | 0.479 | ambiguous | 0.5553 | ambiguous | -0.916 | Destabilizing | 0.953 | D | 0.473 | neutral | None | None | None | None | N |
| A/R | 0.7605 | likely_pathogenic | 0.8142 | pathogenic | -0.465 | Destabilizing | 0.953 | D | 0.451 | neutral | None | None | None | None | N |
| A/S | 0.088 | likely_benign | 0.096 | benign | -0.864 | Destabilizing | 0.034 | N | 0.111 | neutral | N | 0.392938934 | None | None | N |
| A/T | 0.0779 | likely_benign | 0.0892 | benign | -0.914 | Destabilizing | 0.028 | N | 0.249 | neutral | N | 0.406484235 | None | None | N |
| A/V | 0.1182 | likely_benign | 0.1346 | benign | -0.6 | Destabilizing | 0.684 | D | 0.377 | neutral | N | 0.446773419 | None | None | N |
| A/W | 0.883 | likely_pathogenic | 0.9073 | pathogenic | -1.314 | Destabilizing | 0.996 | D | 0.583 | neutral | None | None | None | None | N |
| A/Y | 0.654 | likely_pathogenic | 0.7224 | pathogenic | -0.982 | Destabilizing | 0.835 | D | 0.52 | 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.