Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32291 | 97096;97097;97098 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| N2AB | 30650 | 92173;92174;92175 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| N2A | 29723 | 89392;89393;89394 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| N2B | 23226 | 69901;69902;69903 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| Novex-1 | 23351 | 70276;70277;70278 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| Novex-2 | 23418 | 70477;70478;70479 | chr2:178543102;178543101;178543100 | chr2:179407829;179407828;179407827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs780461366  |
0.101 | None | N | 0.213 | 0.088 | 0.0611884634855 | gnomAD-2.1.1 | 2.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78303E-04 | None | 3.32E-05 | None | 0 | 0 | 0 |
| T/I | rs780461366 |
0.101 | None | N | 0.213 | 0.088 | 0.0611884634855 | gnomAD-3.1.2 | 6.62E-06 | None | None | None | None | N | None | 0 | 6.6E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs780461366 |
0.101 | None | N | 0.213 | 0.088 | 0.0611884634855 | gnomAD-4.0.0 | 5.61178E-06 | None | None | None | None | N | None | 0 | 1.67605E-05 | None | 0 | 1.34318E-04 | None | 0 | 0 | 0 | 1.10458E-05 | 1.61186E-05 |
| T/S | rs1377452178 |
-0.883 | 0.022 | N | 0.267 | 0.036 | 0.0297737177859 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.53E-05 | 0 |
| T/S | rs1377452178 |
-0.883 | 0.022 | N | 0.267 | 0.036 | 0.0297737177859 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| T/S | rs1377452178 |
-0.883 | 0.022 | N | 0.267 | 0.036 | 0.0297737177859 | gnomAD-4.0.0 | 1.97597E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.41566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0913 | likely_benign | 0.0846 | benign | -0.801 | Destabilizing | 0.002 | N | 0.248 | neutral | N | 0.445749125 | None | None | N |
| T/C | 0.5115 | ambiguous | 0.4724 | ambiguous | -0.441 | Destabilizing | 0.439 | N | 0.363 | neutral | None | None | None | None | N |
| T/D | 0.6473 | likely_pathogenic | 0.6271 | pathogenic | -0.307 | Destabilizing | 0.068 | N | 0.459 | neutral | None | None | None | None | N |
| T/E | 0.5558 | ambiguous | 0.5358 | ambiguous | -0.157 | Destabilizing | 0.068 | N | 0.465 | neutral | None | None | None | None | N |
| T/F | 0.296 | likely_benign | 0.2833 | benign | -0.534 | Destabilizing | 0.035 | N | 0.586 | neutral | None | None | None | None | N |
| T/G | 0.3265 | likely_benign | 0.2848 | benign | -1.187 | Destabilizing | 0.068 | N | 0.535 | neutral | None | None | None | None | N |
| T/H | 0.5217 | ambiguous | 0.498 | ambiguous | -1.302 | Destabilizing | 0.747 | D | 0.537 | neutral | None | None | None | None | N |
| T/I | 0.0755 | likely_benign | 0.0755 | benign | 0.184 | Stabilizing | None | N | 0.213 | neutral | N | 0.444498331 | None | None | N |
| T/K | 0.4618 | ambiguous | 0.4448 | ambiguous | -0.242 | Destabilizing | 0.068 | N | 0.423 | neutral | None | None | None | None | N |
| T/L | 0.0543 | likely_benign | 0.0544 | benign | 0.184 | Stabilizing | None | N | 0.212 | neutral | None | None | None | None | N |
| T/M | 0.0577 | likely_benign | 0.0591 | benign | 0.071 | Stabilizing | 0.112 | N | 0.508 | neutral | None | None | None | None | N |
| T/N | 0.2108 | likely_benign | 0.193 | benign | -0.662 | Destabilizing | 0.371 | N | 0.338 | neutral | N | 0.51312891 | None | None | N |
| T/P | 0.2484 | likely_benign | 0.2092 | benign | -0.111 | Destabilizing | 0.371 | N | 0.529 | neutral | N | 0.449037359 | None | None | N |
| T/Q | 0.4621 | ambiguous | 0.4366 | ambiguous | -0.502 | Destabilizing | 0.439 | N | 0.464 | neutral | None | None | None | None | N |
| T/R | 0.4006 | ambiguous | 0.3836 | ambiguous | -0.418 | Destabilizing | 0.204 | N | 0.507 | neutral | None | None | None | None | N |
| T/S | 0.1826 | likely_benign | 0.1636 | benign | -0.984 | Destabilizing | 0.022 | N | 0.267 | neutral | N | 0.477610827 | None | None | N |
| T/V | 0.095 | likely_benign | 0.0952 | benign | -0.111 | Destabilizing | None | N | 0.181 | neutral | None | None | None | None | N |
| T/W | 0.7339 | likely_pathogenic | 0.7272 | pathogenic | -0.604 | Destabilizing | 0.747 | D | 0.584 | neutral | None | None | None | None | N |
| T/Y | 0.4762 | ambiguous | 0.4669 | ambiguous | -0.239 | Destabilizing | 0.204 | N | 0.643 | 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.