Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15895 | 47908;47909;47910 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| N2AB | 14254 | 42985;42986;42987 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| N2A | 13327 | 40204;40205;40206 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| N2B | 6830 | 20713;20714;20715 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| Novex-1 | 6955 | 21088;21089;21090 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| Novex-2 | 7022 | 21289;21290;21291 | chr2:178617402;178617401;178617400 | chr2:179482129;179482128;179482127 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs768530598  |
-2.675 | 1.0 | N | 0.721 | 0.445 | 0.749324134746 | gnomAD-2.1.1 | 1.38E-05 | None | None | None | None | N | None | 0 | 7.03E-05 | None | 0 | 0 | None | 0 | None | 0 | 1E-05 | 0 |
| I/T | rs768530598 |
-2.675 | 1.0 | N | 0.721 | 0.445 | 0.749324134746 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
| I/T | rs768530598 |
-2.675 | 1.0 | N | 0.721 | 0.445 | 0.749324134746 | gnomAD-4.0.0 | 8.81579E-06 | None | None | None | None | N | None | 0 | 1.85977E-05 | None | 0 | 0 | None | 0 | 0 | 1.02487E-05 | 0 | 1.62623E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5822 | likely_pathogenic | 0.7427 | pathogenic | -2.56 | Highly Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| I/C | 0.6714 | likely_pathogenic | 0.7778 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| I/D | 0.8281 | likely_pathogenic | 0.9187 | pathogenic | -2.942 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/E | 0.6956 | likely_pathogenic | 0.8387 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| I/F | 0.1476 | likely_benign | 0.2278 | benign | -1.599 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| I/G | 0.8211 | likely_pathogenic | 0.9114 | pathogenic | -3.005 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| I/H | 0.4217 | ambiguous | 0.5329 | ambiguous | -2.341 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| I/K | 0.4267 | ambiguous | 0.5624 | ambiguous | -2.014 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.470293367 | None | None | N |
| I/L | 0.1492 | likely_benign | 0.2016 | benign | -1.298 | Destabilizing | 0.993 | D | 0.408 | neutral | N | 0.473184277 | None | None | N |
| I/M | 0.1416 | likely_benign | 0.2045 | benign | -1.178 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.582674152 | None | None | N |
| I/N | 0.3185 | likely_benign | 0.4517 | ambiguous | -2.199 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/P | 0.9823 | likely_pathogenic | 0.9904 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/Q | 0.5098 | ambiguous | 0.644 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| I/R | 0.2935 | likely_benign | 0.3943 | ambiguous | -1.498 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.473987309 | None | None | N |
| I/S | 0.4492 | ambiguous | 0.5996 | pathogenic | -2.801 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/T | 0.3632 | ambiguous | 0.5313 | ambiguous | -2.537 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.471884411 | None | None | N |
| I/V | 0.0916 | likely_benign | 0.1103 | benign | -1.699 | Destabilizing | 0.993 | D | 0.395 | neutral | N | 0.479677596 | None | None | N |
| I/W | 0.698 | likely_pathogenic | 0.7936 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| I/Y | 0.4227 | ambiguous | 0.4971 | ambiguous | -1.704 | Destabilizing | 1.0 | D | 0.753 | deleterious | 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.