Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30875 | 92848;92849;92850 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| N2AB | 29234 | 87925;87926;87927 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| N2A | 28307 | 85144;85145;85146 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| N2B | 21810 | 65653;65654;65655 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| Novex-1 | 21935 | 66028;66029;66030 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| Novex-2 | 22002 | 66229;66230;66231 | chr2:178549003;178549002;178549001 | chr2:179413730;179413729;179413728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1248087390  |
-0.845 | None | N | 0.125 | 0.148 | 0.156986980423 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/G | rs1248087390 |
-0.845 | None | N | 0.125 | 0.148 | 0.156986980423 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs1248087390 |
-0.845 | None | N | 0.125 | 0.148 | 0.156986980423 | gnomAD-4.0.0 | 3.22228E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.32258E-05 | 0 | 1.60113E-05 |
| A/P | rs753079465 |
-0.411 | None | N | 0.272 | 0.051 | 0.0954503805726 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/P | rs753079465 |
-0.411 | None | N | 0.272 | 0.051 | 0.0954503805726 | gnomAD-4.0.0 | 2.05253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69829E-06 | 0 | 0 |
| A/S | None | None | 0.012 | N | 0.385 | 0.027 | 0.0762999501168 | gnomAD-4.0.0 | 6.84175E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99431E-07 | 0 | 0 |
| A/T | rs753079465 |
None | None | N | 0.079 | 0.045 | 0.0846915920261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs753079465 |
None | None | N | 0.079 | 0.045 | 0.0846915920261 | gnomAD-4.0.0 | 1.859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5427E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.446 | ambiguous | 0.4934 | ambiguous | -0.8 | Destabilizing | 0.864 | D | 0.455 | neutral | None | None | None | None | N |
| A/D | 0.3585 | ambiguous | 0.3677 | ambiguous | -0.856 | Destabilizing | 0.072 | N | 0.558 | neutral | None | None | None | None | N |
| A/E | 0.3146 | likely_benign | 0.3177 | benign | -0.968 | Destabilizing | 0.055 | N | 0.477 | neutral | N | 0.439788732 | None | None | N |
| A/F | 0.3472 | ambiguous | 0.3898 | ambiguous | -1.027 | Destabilizing | 0.214 | N | 0.549 | neutral | None | None | None | None | N |
| A/G | 0.1533 | likely_benign | 0.1553 | benign | -0.807 | Destabilizing | None | N | 0.125 | neutral | N | 0.36908064 | None | None | N |
| A/H | 0.4878 | ambiguous | 0.5344 | ambiguous | -0.928 | Destabilizing | 0.864 | D | 0.521 | neutral | None | None | None | None | N |
| A/I | 0.181 | likely_benign | 0.201 | benign | -0.435 | Destabilizing | 0.001 | N | 0.217 | neutral | None | None | None | None | N |
| A/K | 0.502 | ambiguous | 0.5349 | ambiguous | -1.06 | Destabilizing | 0.072 | N | 0.481 | neutral | None | None | None | None | N |
| A/L | 0.1453 | likely_benign | 0.1648 | benign | -0.435 | Destabilizing | None | N | 0.222 | neutral | None | None | None | None | N |
| A/M | 0.1953 | likely_benign | 0.2212 | benign | -0.336 | Destabilizing | 0.214 | N | 0.474 | neutral | None | None | None | None | N |
| A/N | 0.2234 | likely_benign | 0.2439 | benign | -0.669 | Destabilizing | 0.214 | N | 0.548 | neutral | None | None | None | None | N |
| A/P | 0.0938 | likely_benign | 0.094 | benign | -0.47 | Destabilizing | None | N | 0.272 | neutral | N | 0.380799143 | None | None | N |
| A/Q | 0.3718 | ambiguous | 0.3923 | ambiguous | -0.928 | Destabilizing | 0.356 | N | 0.474 | neutral | None | None | None | None | N |
| A/R | 0.4687 | ambiguous | 0.5073 | ambiguous | -0.589 | Destabilizing | 0.214 | N | 0.493 | neutral | None | None | None | None | N |
| A/S | 0.1062 | likely_benign | 0.1078 | benign | -0.927 | Destabilizing | 0.012 | N | 0.385 | neutral | N | 0.436287067 | None | None | N |
| A/T | 0.0791 | likely_benign | 0.0836 | benign | -0.957 | Destabilizing | None | N | 0.079 | neutral | N | 0.390170775 | None | None | N |
| A/V | 0.1074 | likely_benign | 0.1137 | benign | -0.47 | Destabilizing | 0.012 | N | 0.342 | neutral | N | 0.445562698 | None | None | N |
| A/W | 0.7149 | likely_pathogenic | 0.7672 | pathogenic | -1.239 | Destabilizing | 0.864 | D | 0.619 | neutral | None | None | None | None | N |
| A/Y | 0.4181 | ambiguous | 0.4591 | ambiguous | -0.892 | Destabilizing | 0.628 | D | 0.547 | 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.