Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4839 | 14740;14741;14742 | chr2:178735931;178735930;178735929 | chr2:179600658;179600657;179600656 |
| N2AB | 4522 | 13789;13790;13791 | chr2:178735931;178735930;178735929 | chr2:179600658;179600657;179600656 |
| N2A | 3595 | 11008;11009;11010 | chr2:178735931;178735930;178735929 | chr2:179600658;179600657;179600656 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1478089830  |
-0.191 | 0.693 | N | 0.392 | 0.087 | 0.256793551483 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs1478089830 |
-0.191 | 0.693 | N | 0.392 | 0.087 | 0.256793551483 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs1478089830 |
-0.191 | 0.693 | N | 0.392 | 0.087 | 0.256793551483 | gnomAD-4.0.0 | 1.31439E-05 | None | None | None | None | N | None | 4.82602E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.061 | N | 0.315 | 0.057 | 0.178374595973 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0763 | likely_benign | 0.0676 | benign | -0.382 | Destabilizing | 0.028 | N | 0.215 | neutral | N | 0.350151745 | None | None | N |
| P/C | 0.397 | ambiguous | 0.3167 | benign | -0.661 | Destabilizing | 0.972 | D | 0.399 | neutral | None | None | None | None | N |
| P/D | 0.2795 | likely_benign | 0.2217 | benign | -0.235 | Destabilizing | None | N | 0.13 | neutral | None | None | None | None | N |
| P/E | 0.1853 | likely_benign | 0.1532 | benign | -0.342 | Destabilizing | 0.001 | N | 0.155 | neutral | None | None | None | None | N |
| P/F | 0.3858 | ambiguous | 0.3041 | benign | -0.643 | Destabilizing | 0.425 | N | 0.491 | neutral | None | None | None | None | N |
| P/G | 0.2096 | likely_benign | 0.1702 | benign | -0.482 | Destabilizing | None | N | 0.123 | neutral | None | None | None | None | N |
| P/H | 0.1493 | likely_benign | 0.1202 | benign | 0.026 | Stabilizing | 0.693 | D | 0.392 | neutral | N | 0.434326057 | None | None | N |
| P/I | 0.2399 | likely_benign | 0.2019 | benign | -0.262 | Destabilizing | 0.174 | N | 0.441 | neutral | None | None | None | None | N |
| P/K | 0.1741 | likely_benign | 0.1487 | benign | -0.329 | Destabilizing | 0.08 | N | 0.322 | neutral | None | None | None | None | N |
| P/L | 0.1108 | likely_benign | 0.0978 | benign | -0.262 | Destabilizing | None | N | 0.213 | neutral | N | 0.446593972 | None | None | N |
| P/M | 0.2509 | likely_benign | 0.2134 | benign | -0.502 | Destabilizing | 0.596 | D | 0.391 | neutral | None | None | None | None | N |
| P/N | 0.2287 | likely_benign | 0.1796 | benign | -0.124 | Destabilizing | 0.08 | N | 0.283 | neutral | None | None | None | None | N |
| P/Q | 0.1129 | likely_benign | 0.0959 | benign | -0.336 | Destabilizing | 0.174 | N | 0.373 | neutral | None | None | None | None | N |
| P/R | 0.1283 | likely_benign | 0.1064 | benign | 0.151 | Stabilizing | 0.001 | N | 0.225 | neutral | N | 0.418914093 | None | None | N |
| P/S | 0.0928 | likely_benign | 0.0797 | benign | -0.462 | Destabilizing | 0.002 | N | 0.163 | neutral | N | 0.347314695 | None | None | N |
| P/T | 0.0857 | likely_benign | 0.0759 | benign | -0.469 | Destabilizing | 0.061 | N | 0.315 | neutral | N | 0.43513062 | None | None | N |
| P/V | 0.1766 | likely_benign | 0.1516 | benign | -0.271 | Destabilizing | 0.08 | N | 0.279 | neutral | None | None | None | None | N |
| P/W | 0.4794 | ambiguous | 0.3892 | ambiguous | -0.71 | Destabilizing | 0.972 | D | 0.414 | neutral | None | None | None | None | N |
| P/Y | 0.3502 | ambiguous | 0.2824 | benign | -0.421 | Destabilizing | 0.749 | D | 0.487 | 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.