Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28224 | 84895;84896;84897 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| N2AB | 26583 | 79972;79973;79974 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| N2A | 25656 | 77191;77192;77193 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| N2B | 19159 | 57700;57701;57702 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| Novex-1 | 19284 | 58075;58076;58077 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| Novex-2 | 19351 | 58276;58277;58278 | chr2:178561462;178561461;178561460 | chr2:179426189;179426188;179426187 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs761882110  |
-0.671 | 0.012 | N | 0.301 | 0.164 | 0.448201132538 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/I | rs761882110 |
-0.671 | 0.012 | N | 0.301 | 0.164 | 0.448201132538 | gnomAD-4.0.0 | 4.10532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4974E-06 | 1.15937E-05 | 0 |
| M/L | None | None | None | N | 0.082 | 0.08 | 0.231231049324 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/R | None | None | 0.055 | N | 0.446 | 0.187 | 0.465294738428 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9948E-07 | 0 | 0 |
| M/T | rs769942168 |
-1.024 | 0.024 | N | 0.411 | 0.163 | 0.467839254973 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| M/T | rs769942168 |
-1.024 | 0.024 | N | 0.411 | 0.163 | 0.467839254973 | 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 |
| M/T | rs769942168 |
-1.024 | 0.024 | N | 0.411 | 0.163 | 0.467839254973 | gnomAD-4.0.0 | 6.19695E-06 | None | None | None | None | N | None | 1.33447E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62858E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3747 | ambiguous | 0.3095 | benign | -2.765 | Highly Destabilizing | 0.014 | N | 0.316 | neutral | None | None | None | None | N |
| M/C | 0.6532 | likely_pathogenic | 0.6015 | pathogenic | -1.985 | Destabilizing | 0.628 | D | 0.46 | neutral | None | None | None | None | N |
| M/D | 0.8319 | likely_pathogenic | 0.7816 | pathogenic | -1.924 | Destabilizing | 0.038 | N | 0.475 | neutral | None | None | None | None | N |
| M/E | 0.5002 | ambiguous | 0.4267 | ambiguous | -1.791 | Destabilizing | None | N | 0.289 | neutral | None | None | None | None | N |
| M/F | 0.321 | likely_benign | 0.3149 | benign | -1.303 | Destabilizing | 0.038 | N | 0.399 | neutral | None | None | None | None | N |
| M/G | 0.6237 | likely_pathogenic | 0.5564 | ambiguous | -3.162 | Highly Destabilizing | 0.072 | N | 0.467 | neutral | None | None | None | None | N |
| M/H | 0.5062 | ambiguous | 0.4613 | ambiguous | -2.394 | Highly Destabilizing | 0.356 | N | 0.487 | neutral | None | None | None | None | N |
| M/I | 0.335 | likely_benign | 0.3008 | benign | -1.648 | Destabilizing | 0.012 | N | 0.301 | neutral | N | 0.453891393 | None | None | N |
| M/K | 0.3269 | likely_benign | 0.2693 | benign | -1.711 | Destabilizing | 0.012 | N | 0.386 | neutral | N | 0.425240567 | None | None | N |
| M/L | 0.0996 | likely_benign | 0.0991 | benign | -1.648 | Destabilizing | None | N | 0.082 | neutral | N | 0.432822687 | None | None | N |
| M/N | 0.4661 | ambiguous | 0.3988 | ambiguous | -1.723 | Destabilizing | 0.072 | N | 0.499 | neutral | None | None | None | None | N |
| M/P | 0.7449 | likely_pathogenic | 0.6717 | pathogenic | -2.002 | Highly Destabilizing | 0.136 | N | 0.533 | neutral | None | None | None | None | N |
| M/Q | 0.2597 | likely_benign | 0.2206 | benign | -1.646 | Destabilizing | 0.003 | N | 0.132 | neutral | None | None | None | None | N |
| M/R | 0.3465 | ambiguous | 0.2899 | benign | -1.346 | Destabilizing | 0.055 | N | 0.446 | neutral | N | 0.42995574 | None | None | N |
| M/S | 0.3581 | ambiguous | 0.2859 | benign | -2.354 | Highly Destabilizing | 0.031 | N | 0.393 | neutral | None | None | None | None | N |
| M/T | 0.2149 | likely_benign | 0.1685 | benign | -2.121 | Highly Destabilizing | 0.024 | N | 0.411 | neutral | N | 0.38364466 | None | None | N |
| M/V | 0.1124 | likely_benign | 0.1014 | benign | -2.002 | Highly Destabilizing | 0.005 | N | 0.185 | neutral | N | 0.411159336 | None | None | N |
| M/W | 0.5525 | ambiguous | 0.5251 | ambiguous | -1.407 | Destabilizing | 0.864 | D | 0.447 | neutral | None | None | None | None | N |
| M/Y | 0.5068 | ambiguous | 0.4757 | ambiguous | -1.529 | Destabilizing | 0.356 | N | 0.535 | 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.