Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5216 | 15871;15872;15873 | chr2:178733743;178733742;178733741 | chr2:179598470;179598469;179598468 |
| N2AB | 4899 | 14920;14921;14922 | chr2:178733743;178733742;178733741 | chr2:179598470;179598469;179598468 |
| N2A | 3972 | 12139;12140;12141 | chr2:178733743;178733742;178733741 | chr2:179598470;179598469;179598468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | 0.066 | 0.211 | 0.411665641125 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 0 | 0 | 0 |
| M/R | None | None | 0.055 | N | 0.553 | 0.339 | 0.619976913611 | gnomAD-4.0.0 | 4.80369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25256E-06 | 0 | 0 |
| M/V | rs1175889760  |
-1.475 | None | N | 0.051 | 0.136 | 0.386071988338 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15861E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/V | rs1175889760 |
-1.475 | None | N | 0.051 | 0.136 | 0.386071988338 | gnomAD-4.0.0 | 3.42098E-06 | None | None | None | None | N | None | 0 | 8.94414E-05 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3852 | ambiguous | 0.5273 | ambiguous | -1.723 | Destabilizing | 0.007 | N | 0.271 | neutral | None | None | None | None | N |
| M/C | 0.7274 | likely_pathogenic | 0.8103 | pathogenic | -1.235 | Destabilizing | 0.356 | N | 0.485 | neutral | None | None | None | None | N |
| M/D | 0.8652 | likely_pathogenic | 0.9284 | pathogenic | -0.46 | Destabilizing | 0.072 | N | 0.58 | neutral | None | None | None | None | N |
| M/E | 0.5443 | ambiguous | 0.6753 | pathogenic | -0.404 | Destabilizing | 0.072 | N | 0.473 | neutral | None | None | None | None | N |
| M/F | 0.3003 | likely_benign | 0.337 | benign | -0.619 | Destabilizing | 0.072 | N | 0.365 | neutral | None | None | None | None | N |
| M/G | 0.6261 | likely_pathogenic | 0.7526 | pathogenic | -2.061 | Highly Destabilizing | 0.072 | N | 0.507 | neutral | None | None | None | None | N |
| M/H | 0.5404 | ambiguous | 0.6633 | pathogenic | -1.086 | Destabilizing | 0.628 | D | 0.551 | neutral | None | None | None | None | N |
| M/I | 0.2138 | likely_benign | 0.2628 | benign | -0.839 | Destabilizing | None | N | 0.066 | neutral | N | 0.361327821 | None | None | N |
| M/K | 0.2175 | likely_benign | 0.2933 | benign | -0.607 | Destabilizing | 0.055 | N | 0.463 | neutral | N | 0.513488895 | None | None | N |
| M/L | 0.118 | likely_benign | 0.1345 | benign | -0.839 | Destabilizing | None | N | 0.044 | neutral | N | 0.434213769 | None | None | N |
| M/N | 0.4976 | ambiguous | 0.6643 | pathogenic | -0.523 | Destabilizing | 0.072 | N | 0.584 | neutral | None | None | None | None | N |
| M/P | 0.7822 | likely_pathogenic | 0.8728 | pathogenic | -1.107 | Destabilizing | 0.136 | N | 0.587 | neutral | None | None | None | None | N |
| M/Q | 0.3006 | likely_benign | 0.3877 | ambiguous | -0.541 | Destabilizing | 0.136 | N | 0.436 | neutral | None | None | None | None | N |
| M/R | 0.2196 | likely_benign | 0.2906 | benign | -0.172 | Destabilizing | 0.055 | N | 0.553 | neutral | N | 0.50810223 | None | None | N |
| M/S | 0.425 | ambiguous | 0.585 | pathogenic | -1.147 | Destabilizing | 0.016 | N | 0.356 | neutral | None | None | None | None | N |
| M/T | 0.2031 | likely_benign | 0.3316 | benign | -0.972 | Destabilizing | None | N | 0.157 | neutral | N | 0.484506054 | None | None | N |
| M/V | 0.1 | likely_benign | 0.1165 | benign | -1.107 | Destabilizing | None | N | 0.051 | neutral | N | 0.414011642 | None | None | N |
| M/W | 0.6447 | likely_pathogenic | 0.6934 | pathogenic | -0.574 | Destabilizing | 0.864 | D | 0.476 | neutral | None | None | None | None | N |
| M/Y | 0.492 | ambiguous | 0.5768 | pathogenic | -0.608 | Destabilizing | 0.136 | N | 0.567 | 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.