Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17532 | 52819;52820;52821 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| N2AB | 15891 | 47896;47897;47898 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| N2A | 14964 | 45115;45116;45117 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| N2B | 8467 | 25624;25625;25626 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| Novex-1 | 8592 | 25999;26000;26001 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| Novex-2 | 8659 | 26200;26201;26202 | chr2:178608289;178608288;178608287 | chr2:179473016;179473015;179473014 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1401966542  |
None | 0.117 | N | 0.483 | 0.217 | 0.218112801441 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1401966542 |
None | 0.117 | N | 0.483 | 0.217 | 0.218112801441 | gnomAD-4.0.0 | 1.86094E-06 | None | None | None | None | N | None | 2.67294E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4811E-07 | 0 | 0 |
| D/H | None | None | 0.484 | N | 0.581 | 0.254 | 0.273503213844 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 6.07533E-05 | 0 |
| D/V | None | None | 0.317 | N | 0.588 | 0.271 | 0.385906861911 | gnomAD-4.0.0 | 6.84882E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99967E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1002 | likely_benign | 0.1058 | benign | -0.412 | Destabilizing | 0.062 | N | 0.528 | neutral | N | 0.475978818 | None | None | N |
| D/C | 0.3647 | ambiguous | 0.3712 | ambiguous | 0.208 | Stabilizing | 0.935 | D | 0.628 | neutral | None | None | None | None | N |
| D/E | 0.0765 | likely_benign | 0.0824 | benign | -0.304 | Destabilizing | None | N | 0.157 | neutral | N | 0.389301196 | None | None | N |
| D/F | 0.4153 | ambiguous | 0.4351 | ambiguous | -0.543 | Destabilizing | 0.791 | D | 0.627 | neutral | None | None | None | None | N |
| D/G | 0.1148 | likely_benign | 0.1208 | benign | -0.593 | Destabilizing | 0.117 | N | 0.483 | neutral | N | 0.458990568 | None | None | N |
| D/H | 0.164 | likely_benign | 0.1624 | benign | -0.553 | Destabilizing | 0.484 | N | 0.581 | neutral | N | 0.467167334 | None | None | N |
| D/I | 0.1889 | likely_benign | 0.2072 | benign | 0.016 | Stabilizing | 0.555 | D | 0.625 | neutral | None | None | None | None | N |
| D/K | 0.1658 | likely_benign | 0.1674 | benign | 0.339 | Stabilizing | 0.081 | N | 0.483 | neutral | None | None | None | None | N |
| D/L | 0.2117 | likely_benign | 0.2215 | benign | 0.016 | Stabilizing | 0.38 | N | 0.592 | neutral | None | None | None | None | N |
| D/M | 0.3563 | ambiguous | 0.3863 | ambiguous | 0.375 | Stabilizing | 0.935 | D | 0.61 | neutral | None | None | None | None | N |
| D/N | 0.0813 | likely_benign | 0.0843 | benign | 0.117 | Stabilizing | 0.117 | N | 0.449 | neutral | N | 0.456430265 | None | None | N |
| D/P | 0.3026 | likely_benign | 0.3266 | benign | -0.106 | Destabilizing | 0.555 | D | 0.559 | neutral | None | None | None | None | N |
| D/Q | 0.1572 | likely_benign | 0.1635 | benign | 0.125 | Stabilizing | 0.081 | N | 0.423 | neutral | None | None | None | None | N |
| D/R | 0.2186 | likely_benign | 0.2174 | benign | 0.352 | Stabilizing | 0.235 | N | 0.604 | neutral | None | None | None | None | N |
| D/S | 0.0769 | likely_benign | 0.0799 | benign | 0.004 | Stabilizing | 0.081 | N | 0.458 | neutral | None | None | None | None | N |
| D/T | 0.1057 | likely_benign | 0.1107 | benign | 0.144 | Stabilizing | 0.149 | N | 0.493 | neutral | None | None | None | None | N |
| D/V | 0.111 | likely_benign | 0.1201 | benign | -0.106 | Destabilizing | 0.317 | N | 0.588 | neutral | N | 0.445271909 | None | None | N |
| D/W | 0.7391 | likely_pathogenic | 0.7432 | pathogenic | -0.446 | Destabilizing | 0.935 | D | 0.642 | neutral | None | None | None | None | N |
| D/Y | 0.1699 | likely_benign | 0.1684 | benign | -0.317 | Destabilizing | 0.741 | D | 0.627 | neutral | N | 0.495431371 | 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.