Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24630 | 74113;74114;74115 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| N2AB | 22989 | 69190;69191;69192 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| N2A | 22062 | 66409;66410;66411 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| N2B | 15565 | 46918;46919;46920 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| Novex-1 | 15690 | 47293;47294;47295 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| Novex-2 | 15757 | 47494;47495;47496 | chr2:178572244;178572243;178572242 | chr2:179436971;179436970;179436969 |
| 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 | rs573355547  |
-1.285 | 0.013 | N | 0.165 | 0.199 | 0.309839678437 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24316E-04 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs573355547 |
-1.285 | 0.013 | N | 0.165 | 0.199 | 0.309839678437 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93723E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/G | rs573355547 |
-1.285 | 0.013 | N | 0.165 | 0.199 | 0.309839678437 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/G | rs573355547 |
-1.285 | 0.013 | N | 0.165 | 0.199 | 0.309839678437 | gnomAD-4.0.0 | 4.33869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.34132E-04 | None | 0 | 0 | 8.47761E-07 | 0 | 0 |
| R/S | None | None | 0.144 | N | 0.14 | 0.193 | 0.167679373172 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.4723 | ambiguous | 0.4402 | ambiguous | -0.565 | Destabilizing | 0.55 | D | 0.413 | neutral | None | None | None | None | N |
| R/C | 0.2129 | likely_benign | 0.2066 | benign | -0.443 | Destabilizing | 0.999 | D | 0.453 | neutral | None | None | None | None | N |
| R/D | 0.8494 | likely_pathogenic | 0.8378 | pathogenic | -0.339 | Destabilizing | 0.931 | D | 0.491 | neutral | None | None | None | None | N |
| R/E | 0.5178 | ambiguous | 0.4998 | ambiguous | -0.285 | Destabilizing | 0.627 | D | 0.363 | neutral | None | None | None | None | N |
| R/F | 0.8352 | likely_pathogenic | 0.8079 | pathogenic | -0.845 | Destabilizing | 0.992 | D | 0.494 | neutral | None | None | None | None | N |
| R/G | 0.3161 | likely_benign | 0.279 | benign | -0.78 | Destabilizing | 0.013 | N | 0.165 | neutral | N | 0.460566649 | None | None | N |
| R/H | 0.1636 | likely_benign | 0.1518 | benign | -1.161 | Destabilizing | 0.992 | D | 0.379 | neutral | None | None | None | None | N |
| R/I | 0.6022 | likely_pathogenic | 0.5661 | pathogenic | -0.017 | Destabilizing | 0.968 | D | 0.508 | neutral | N | 0.483383427 | None | None | N |
| R/K | 0.1119 | likely_benign | 0.1046 | benign | -0.608 | Destabilizing | 0.007 | N | 0.073 | neutral | N | 0.394651088 | None | None | N |
| R/L | 0.4947 | ambiguous | 0.4507 | ambiguous | -0.017 | Destabilizing | 0.919 | D | 0.517 | neutral | None | None | None | None | N |
| R/M | 0.4861 | ambiguous | 0.456 | ambiguous | -0.054 | Destabilizing | 0.992 | D | 0.432 | neutral | None | None | None | None | N |
| R/N | 0.709 | likely_pathogenic | 0.692 | pathogenic | -0.049 | Destabilizing | 0.931 | D | 0.333 | neutral | None | None | None | None | N |
| R/P | 0.8127 | likely_pathogenic | 0.77 | pathogenic | -0.18 | Destabilizing | 0.99 | D | 0.47 | neutral | None | None | None | None | N |
| R/Q | 0.1191 | likely_benign | 0.1139 | benign | -0.366 | Destabilizing | 0.909 | D | 0.418 | neutral | None | None | None | None | N |
| R/S | 0.5803 | likely_pathogenic | 0.5572 | ambiguous | -0.649 | Destabilizing | 0.144 | N | 0.14 | neutral | N | 0.415330217 | None | None | N |
| R/T | 0.4822 | ambiguous | 0.4541 | ambiguous | -0.459 | Destabilizing | 0.837 | D | 0.443 | neutral | N | 0.510955397 | None | None | N |
| R/V | 0.6292 | likely_pathogenic | 0.5952 | pathogenic | -0.18 | Destabilizing | 0.892 | D | 0.513 | neutral | None | None | None | None | N |
| R/W | 0.3931 | ambiguous | 0.3472 | ambiguous | -0.68 | Destabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| R/Y | 0.6284 | likely_pathogenic | 0.5958 | pathogenic | -0.304 | Destabilizing | 0.992 | D | 0.462 | 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.