Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21039 | 63340;63341;63342 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| N2AB | 19398 | 58417;58418;58419 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| N2A | 18471 | 55636;55637;55638 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| N2B | 11974 | 36145;36146;36147 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| Novex-1 | 12099 | 36520;36521;36522 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| Novex-2 | 12166 | 36721;36722;36723 | chr2:178588610;178588609;178588608 | chr2:179453337;179453336;179453335 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/T | rs886038878  |
-1.488 | 0.955 | N | 0.661 | 0.262 | 0.328486982098 | gnomAD-2.1.1 | 8E-06 | None | None | None | None | N | None | 4.21E-05 | 3.39E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs886038878 |
-1.488 | 0.955 | N | 0.661 | 0.262 | 0.328486982098 | gnomAD-3.1.2 | 9.21E-05 | None | None | None | None | N | None | 9.65E-05 | 5.90164E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| K/T | rs886038878 |
-1.488 | 0.955 | N | 0.661 | 0.262 | 0.328486982098 | gnomAD-4.0.0 | 2.43071E-05 | None | None | None | None | N | None | 6.95894E-05 | 2.47723E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.00481E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6329 | likely_pathogenic | 0.5105 | ambiguous | -1.286 | Destabilizing | 0.966 | D | 0.626 | neutral | None | None | None | None | N |
| K/C | 0.6323 | likely_pathogenic | 0.5375 | ambiguous | -1.439 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| K/D | 0.9583 | likely_pathogenic | 0.9316 | pathogenic | -1.591 | Destabilizing | 0.995 | D | 0.708 | prob.delet. | None | None | None | None | N |
| K/E | 0.6423 | likely_pathogenic | 0.5504 | ambiguous | -1.332 | Destabilizing | 0.977 | D | 0.602 | neutral | N | 0.509534032 | None | None | N |
| K/F | 0.8471 | likely_pathogenic | 0.7826 | pathogenic | -0.49 | Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| K/G | 0.8301 | likely_pathogenic | 0.74 | pathogenic | -1.751 | Destabilizing | 0.966 | D | 0.665 | neutral | None | None | None | None | N |
| K/H | 0.4932 | ambiguous | 0.4201 | ambiguous | -1.915 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| K/I | 0.692 | likely_pathogenic | 0.5511 | ambiguous | 0.012 | Stabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| K/L | 0.569 | likely_pathogenic | 0.4623 | ambiguous | 0.012 | Stabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/M | 0.293 | likely_benign | 0.2387 | benign | -0.362 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.504899003 | None | None | N |
| K/N | 0.8655 | likely_pathogenic | 0.8009 | pathogenic | -1.685 | Destabilizing | 0.993 | D | 0.728 | prob.delet. | N | 0.490905071 | None | None | N |
| K/P | 0.9965 | likely_pathogenic | 0.9944 | pathogenic | -0.398 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| K/Q | 0.2426 | likely_benign | 0.2048 | benign | -1.403 | Destabilizing | 0.997 | D | 0.731 | prob.delet. | N | 0.509165885 | None | None | N |
| K/R | 0.0891 | likely_benign | 0.0804 | benign | -1.261 | Destabilizing | 0.977 | D | 0.619 | neutral | N | 0.447253422 | None | None | N |
| K/S | 0.6811 | likely_pathogenic | 0.5747 | pathogenic | -2.209 | Highly Destabilizing | 0.43 | N | 0.473 | neutral | None | None | None | None | N |
| K/T | 0.3658 | ambiguous | 0.2691 | benign | -1.708 | Destabilizing | 0.955 | D | 0.661 | neutral | N | 0.481077994 | None | None | N |
| K/V | 0.5856 | likely_pathogenic | 0.4689 | ambiguous | -0.398 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/W | 0.8328 | likely_pathogenic | 0.7563 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| K/Y | 0.7151 | likely_pathogenic | 0.6063 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.793 | deleterious | 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.