Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16040 | 48343;48344;48345 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| N2AB | 14399 | 43420;43421;43422 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| N2A | 13472 | 40639;40640;40641 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| N2B | 6975 | 21148;21149;21150 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| Novex-1 | 7100 | 21523;21524;21525 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| Novex-2 | 7167 | 21724;21725;21726 | chr2:178616771;178616770;178616769 | chr2:179481498;179481497;179481496 |
| 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/C | rs774736458  |
-0.034 | 0.807 | N | 0.223 | 0.271 | 0.470810165807 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 1.30856E-04 | None | 0 | 0 | 0 |
| R/C | rs774736458 |
-0.034 | 0.807 | N | 0.223 | 0.271 | 0.470810165807 | gnomAD-3.1.2 | 2.64E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| R/C | rs774736458 |
-0.034 | 0.807 | N | 0.223 | 0.271 | 0.470810165807 | gnomAD-4.0.0 | 1.24044E-05 | None | None | None | None | I | None | 2.67508E-05 | 1.67012E-05 | None | 0 | 2.23414E-05 | None | 0 | 0 | 6.78477E-06 | 8.78908E-05 | 0 |
| R/H | rs956699957 |
-0.547 | 0.807 | N | 0.317 | 0.198 | 0.220303561663 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| R/H | rs956699957 |
-0.547 | 0.807 | N | 0.317 | 0.198 | 0.220303561663 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06954E-04 | 4.78927E-04 |
| R/H | rs956699957 |
-0.547 | 0.807 | N | 0.317 | 0.198 | 0.220303561663 | gnomAD-4.0.0 | 1.42627E-05 | None | None | None | None | I | None | 1.33454E-05 | 5.00751E-05 | None | 0 | 4.46887E-05 | None | 0 | 0 | 1.35693E-05 | 1.09849E-05 | 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 | 0.1306 | likely_benign | 0.1364 | benign | 0.102 | Stabilizing | 0.004 | N | 0.287 | neutral | None | None | None | None | I |
| R/C | 0.1769 | likely_benign | 0.1698 | benign | -0.146 | Destabilizing | 0.807 | D | 0.223 | neutral | N | 0.467570361 | None | None | I |
| R/D | 0.2253 | likely_benign | 0.2303 | benign | -0.271 | Destabilizing | None | N | 0.219 | neutral | None | None | None | None | I |
| R/E | 0.1628 | likely_benign | 0.1679 | benign | -0.228 | Destabilizing | 0.004 | N | 0.305 | neutral | None | None | None | None | I |
| R/F | 0.4477 | ambiguous | 0.4551 | ambiguous | -0.209 | Destabilizing | 0.245 | N | 0.287 | neutral | None | None | None | None | I |
| R/G | 0.1244 | likely_benign | 0.1318 | benign | -0.042 | Destabilizing | 0.015 | N | 0.326 | neutral | N | 0.443044416 | None | None | I |
| R/H | 0.1122 | likely_benign | 0.1122 | benign | -0.58 | Destabilizing | 0.807 | D | 0.317 | neutral | N | 0.467074638 | None | None | I |
| R/I | 0.1638 | likely_benign | 0.1777 | benign | 0.435 | Stabilizing | 0.044 | N | 0.362 | neutral | None | None | None | None | I |
| R/K | 0.0909 | likely_benign | 0.0899 | benign | -0.071 | Destabilizing | 0.008 | N | 0.285 | neutral | None | None | None | None | I |
| R/L | 0.1509 | likely_benign | 0.1575 | benign | 0.435 | Stabilizing | 0.018 | N | 0.28 | neutral | N | 0.429075319 | None | None | I |
| R/M | 0.1905 | likely_benign | 0.2036 | benign | -0.019 | Destabilizing | 0.497 | N | 0.289 | neutral | None | None | None | None | I |
| R/N | 0.2108 | likely_benign | 0.2146 | benign | 0.047 | Stabilizing | 0.018 | N | 0.371 | neutral | None | None | None | None | I |
| R/P | 0.1076 | likely_benign | 0.091 | benign | 0.342 | Stabilizing | None | N | 0.213 | neutral | N | 0.295204754 | None | None | I |
| R/Q | 0.0905 | likely_benign | 0.0894 | benign | 0.007 | Stabilizing | 0.085 | N | 0.421 | neutral | None | None | None | None | I |
| R/S | 0.1744 | likely_benign | 0.1813 | benign | -0.122 | Destabilizing | 0.001 | N | 0.207 | neutral | N | 0.385643378 | None | None | I |
| R/T | 0.093 | likely_benign | 0.0988 | benign | 0.027 | Stabilizing | None | N | 0.209 | neutral | None | None | None | None | I |
| R/V | 0.1959 | likely_benign | 0.2 | benign | 0.342 | Stabilizing | 0.009 | N | 0.272 | neutral | None | None | None | None | I |
| R/W | 0.255 | likely_benign | 0.2512 | benign | -0.399 | Destabilizing | 0.788 | D | 0.227 | neutral | None | None | None | None | I |
| R/Y | 0.3579 | ambiguous | 0.3463 | ambiguous | 0.014 | Stabilizing | 0.497 | N | 0.31 | neutral | None | None | None | None | I |
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.