Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2417 | 7474;7475;7476 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| N2AB | 2417 | 7474;7475;7476 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| N2A | 2417 | 7474;7475;7476 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| N2B | 2371 | 7336;7337;7338 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| Novex-1 | 2371 | 7336;7337;7338 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| Novex-2 | 2371 | 7336;7337;7338 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
| Novex-3 | 2417 | 7474;7475;7476 | chr2:178773919;178773918;178773917 | chr2:179638646;179638645;179638644 |
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 | rs765426928  |
-0.206 | 0.039 | N | 0.327 | 0.223 | 0.391930172978 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/I | rs765426928 |
-0.206 | 0.039 | N | 0.327 | 0.223 | 0.391930172978 | gnomAD-4.0.0 | 1.59057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| M/T | rs758233166 |
-0.974 | 0.159 | N | 0.411 | 0.333 | 0.67336208464 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 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 | 0.3845 | ambiguous | 0.3672 | ambiguous | -0.956 | Destabilizing | 0.001 | N | 0.243 | neutral | None | None | None | None | N |
| M/C | 0.7526 | likely_pathogenic | 0.7442 | pathogenic | -1.875 | Destabilizing | 0.968 | D | 0.573 | neutral | None | None | None | None | N |
| M/D | 0.9875 | likely_pathogenic | 0.9871 | pathogenic | -1.744 | Destabilizing | 0.738 | D | 0.592 | neutral | None | None | None | None | N |
| M/E | 0.9518 | likely_pathogenic | 0.951 | pathogenic | -1.688 | Destabilizing | 0.365 | N | 0.479 | neutral | None | None | None | None | N |
| M/F | 0.8163 | likely_pathogenic | 0.8345 | pathogenic | -0.445 | Destabilizing | 0.582 | D | 0.423 | neutral | None | None | None | None | N |
| M/G | 0.8318 | likely_pathogenic | 0.8249 | pathogenic | -1.248 | Destabilizing | 0.223 | N | 0.441 | neutral | None | None | None | None | N |
| M/H | 0.9702 | likely_pathogenic | 0.9709 | pathogenic | -0.847 | Destabilizing | 0.968 | D | 0.579 | neutral | None | None | None | None | N |
| M/I | 0.5354 | ambiguous | 0.5461 | ambiguous | -0.21 | Destabilizing | 0.039 | N | 0.327 | neutral | N | 0.438009819 | None | None | N |
| M/K | 0.9173 | likely_pathogenic | 0.9179 | pathogenic | -0.45 | Destabilizing | 0.302 | N | 0.45 | neutral | N | 0.466000906 | None | None | N |
| M/L | 0.2631 | likely_benign | 0.2667 | benign | -0.21 | Destabilizing | None | N | 0.133 | neutral | N | 0.346126857 | None | None | N |
| M/N | 0.8785 | likely_pathogenic | 0.8752 | pathogenic | -0.624 | Destabilizing | 0.738 | D | 0.586 | neutral | None | None | None | None | N |
| M/P | 0.9772 | likely_pathogenic | 0.9786 | pathogenic | -0.432 | Destabilizing | 0.738 | D | 0.538 | neutral | None | None | None | None | N |
| M/Q | 0.8455 | likely_pathogenic | 0.8448 | pathogenic | -0.71 | Destabilizing | 0.738 | D | 0.473 | neutral | None | None | None | None | N |
| M/R | 0.9175 | likely_pathogenic | 0.917 | pathogenic | -0.278 | Destabilizing | 0.68 | D | 0.535 | neutral | N | 0.466000906 | None | None | N |
| M/S | 0.6004 | likely_pathogenic | 0.593 | pathogenic | -0.996 | Destabilizing | 0.111 | N | 0.402 | neutral | None | None | None | None | N |
| M/T | 0.3005 | likely_benign | 0.285 | benign | -0.836 | Destabilizing | 0.159 | N | 0.411 | neutral | N | 0.355358335 | None | None | N |
| M/V | 0.1127 | likely_benign | 0.1058 | benign | -0.432 | Destabilizing | None | N | 0.128 | neutral | N | 0.245986946 | None | None | N |
| M/W | 0.989 | likely_pathogenic | 0.9902 | pathogenic | -0.674 | Destabilizing | 0.991 | D | 0.553 | neutral | None | None | None | None | N |
| M/Y | 0.9715 | likely_pathogenic | 0.9745 | pathogenic | -0.399 | Destabilizing | 0.738 | D | 0.561 | 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.