Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28659 | 86200;86201;86202 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| N2AB | 27018 | 81277;81278;81279 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| N2A | 26091 | 78496;78497;78498 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| N2B | 19594 | 59005;59006;59007 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| Novex-1 | 19719 | 59380;59381;59382 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| Novex-2 | 19786 | 59581;59582;59583 | chr2:178560157;178560156;178560155 | chr2:179424884;179424883;179424882 |
| 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/I | None | None | 0.188 | N | 0.631 | 0.129 | 0.452072420954 | gnomAD-4.0.0 | 2.73707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63779E-05 | 0 |
| K/R | rs200724395  |
None | None | N | 0.307 | 0.039 | 0.159798565429 | gnomAD-4.0.0 | 6.1584E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.76411E-04 | None | 0 | 0 | 1.79909E-06 | 0 | 0 |
| K/T | rs200724395 |
-0.322 | None | N | 0.346 | 0.058 | None | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.12E-05 | 1.66334E-04 |
| K/T | rs200724395 |
-0.322 | None | N | 0.346 | 0.058 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.32345E-04 | 0 | 0 |
| K/T | rs200724395 |
-0.322 | None | N | 0.346 | 0.058 | None | gnomAD-4.0.0 | 2.91304E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.81459E-05 | 0 | 3.20246E-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 | 0.431 | ambiguous | 0.4311 | ambiguous | -0.236 | Destabilizing | 0.035 | N | 0.453 | neutral | None | None | None | None | N |
| K/C | 0.6589 | likely_pathogenic | 0.6064 | pathogenic | -0.317 | Destabilizing | 0.824 | D | 0.625 | neutral | None | None | None | None | N |
| K/D | 0.7468 | likely_pathogenic | 0.7378 | pathogenic | 0.057 | Stabilizing | 0.081 | N | 0.491 | neutral | None | None | None | None | N |
| K/E | 0.3059 | likely_benign | 0.3226 | benign | 0.139 | Stabilizing | 0.027 | N | 0.446 | neutral | N | 0.450872517 | None | None | N |
| K/F | 0.7893 | likely_pathogenic | 0.7618 | pathogenic | 0.011 | Stabilizing | 0.555 | D | 0.62 | neutral | None | None | None | None | N |
| K/G | 0.5749 | likely_pathogenic | 0.5658 | pathogenic | -0.563 | Destabilizing | 0.081 | N | 0.528 | neutral | None | None | None | None | N |
| K/H | 0.3067 | likely_benign | 0.2679 | benign | -0.878 | Destabilizing | 0.38 | N | 0.582 | neutral | None | None | None | None | N |
| K/I | 0.406 | ambiguous | 0.3877 | ambiguous | 0.587 | Stabilizing | 0.188 | N | 0.631 | neutral | N | 0.497164954 | None | None | N |
| K/L | 0.4419 | ambiguous | 0.4283 | ambiguous | 0.587 | Stabilizing | 0.081 | N | 0.554 | neutral | None | None | None | None | N |
| K/M | 0.309 | likely_benign | 0.3293 | benign | 0.285 | Stabilizing | 0.555 | D | 0.578 | neutral | None | None | None | None | N |
| K/N | 0.5591 | ambiguous | 0.5662 | pathogenic | -0.171 | Destabilizing | None | N | 0.322 | neutral | N | 0.520791175 | None | None | N |
| K/P | 0.9474 | likely_pathogenic | 0.9341 | pathogenic | 0.344 | Stabilizing | 0.555 | D | 0.59 | neutral | None | None | None | None | N |
| K/Q | 0.1609 | likely_benign | 0.1615 | benign | -0.224 | Destabilizing | 0.001 | N | 0.287 | neutral | N | 0.465532538 | None | None | N |
| K/R | 0.071 | likely_benign | 0.0655 | benign | -0.462 | Destabilizing | None | N | 0.307 | neutral | N | 0.47478674 | None | None | N |
| K/S | 0.5234 | ambiguous | 0.5147 | ambiguous | -0.717 | Destabilizing | 0.002 | N | 0.333 | neutral | None | None | None | None | N |
| K/T | 0.255 | likely_benign | 0.2679 | benign | -0.446 | Destabilizing | None | N | 0.346 | neutral | N | 0.474458666 | None | None | N |
| K/V | 0.3374 | likely_benign | 0.3162 | benign | 0.344 | Stabilizing | 0.081 | N | 0.6 | neutral | None | None | None | None | N |
| K/W | 0.7658 | likely_pathogenic | 0.7158 | pathogenic | 0.062 | Stabilizing | 0.935 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/Y | 0.6567 | likely_pathogenic | 0.6074 | pathogenic | 0.35 | Stabilizing | 0.555 | D | 0.624 | 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.