Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6352 | 19279;19280;19281 | chr2:178728984;178728983;178728982 | chr2:179593711;179593710;179593709 |
| N2AB | 6035 | 18328;18329;18330 | chr2:178728984;178728983;178728982 | chr2:179593711;179593710;179593709 |
| N2A | 5108 | 15547;15548;15549 | chr2:178728984;178728983;178728982 | chr2:179593711;179593710;179593709 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs569003242  |
-0.91 | 0.001 | N | 0.174 | 0.204 | 0.303453137403 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.59E-05 | 0 |
| R/G | rs569003242 |
-0.91 | 0.001 | N | 0.174 | 0.204 | 0.303453137403 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| R/G | rs569003242 |
-0.91 | 0.001 | N | 0.174 | 0.204 | 0.303453137403 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/G | rs569003242 |
-0.91 | 0.001 | N | 0.174 | 0.204 | 0.303453137403 | gnomAD-4.0.0 | 8.67894E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18693E-05 | 0 | 0 |
| R/K | None | None | 0.001 | N | 0.123 | 0.131 | 0.181679512989 | gnomAD-4.0.0 | 1.59303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86013E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1612 | likely_benign | 0.1544 | benign | -0.788 | Destabilizing | 0.061 | N | 0.255 | neutral | None | None | None | None | N |
| R/C | 0.1297 | likely_benign | 0.12 | benign | -0.73 | Destabilizing | 0.951 | D | 0.289 | neutral | None | None | None | None | N |
| R/D | 0.3116 | likely_benign | 0.285 | benign | -0.12 | Destabilizing | 0.002 | N | 0.207 | neutral | None | None | None | None | N |
| R/E | 0.192 | likely_benign | 0.181 | benign | -0.031 | Destabilizing | 0.129 | N | 0.227 | neutral | None | None | None | None | N |
| R/F | 0.2775 | likely_benign | 0.2557 | benign | -0.887 | Destabilizing | 0.836 | D | 0.315 | neutral | None | None | None | None | N |
| R/G | 0.1049 | likely_benign | 0.1027 | benign | -1.049 | Destabilizing | 0.001 | N | 0.174 | neutral | N | 0.476686186 | None | None | N |
| R/H | 0.0813 | likely_benign | 0.0787 | benign | -1.357 | Destabilizing | 0.836 | D | 0.331 | neutral | None | None | None | None | N |
| R/I | 0.1245 | likely_benign | 0.1118 | benign | -0.105 | Destabilizing | 0.487 | N | 0.379 | neutral | N | 0.495079946 | None | None | N |
| R/K | 0.0731 | likely_benign | 0.0701 | benign | -0.784 | Destabilizing | 0.001 | N | 0.123 | neutral | N | 0.480166422 | None | None | N |
| R/L | 0.1174 | likely_benign | 0.1092 | benign | -0.105 | Destabilizing | 0.129 | N | 0.369 | neutral | None | None | None | None | N |
| R/M | 0.1483 | likely_benign | 0.1404 | benign | -0.271 | Destabilizing | 0.836 | D | 0.323 | neutral | None | None | None | None | N |
| R/N | 0.2306 | likely_benign | 0.2075 | benign | -0.209 | Destabilizing | 0.264 | N | 0.23 | neutral | None | None | None | None | N |
| R/P | 0.2571 | likely_benign | 0.2605 | benign | -0.313 | Destabilizing | 0.001 | N | 0.169 | neutral | None | None | None | None | N |
| R/Q | 0.0811 | likely_benign | 0.078 | benign | -0.475 | Destabilizing | 0.264 | N | 0.271 | neutral | None | None | None | None | N |
| R/S | 0.1823 | likely_benign | 0.1694 | benign | -0.975 | Destabilizing | 0.101 | N | 0.289 | neutral | N | 0.417867169 | None | None | N |
| R/T | 0.1059 | likely_benign | 0.1037 | benign | -0.722 | Destabilizing | 0.001 | N | 0.149 | neutral | N | 0.445112486 | None | None | N |
| R/V | 0.1703 | likely_benign | 0.1575 | benign | -0.313 | Destabilizing | 0.264 | N | 0.385 | neutral | None | None | None | None | N |
| R/W | 0.1297 | likely_benign | 0.1299 | benign | -0.603 | Destabilizing | 0.983 | D | 0.297 | neutral | None | None | None | None | N |
| R/Y | 0.2078 | likely_benign | 0.1899 | benign | -0.268 | Destabilizing | 0.836 | D | 0.321 | 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.