Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7997 | 24214;24215;24216 | chr2:178719401;178719400;178719399 | chr2:179584128;179584127;179584126 |
| N2AB | 7680 | 23263;23264;23265 | chr2:178719401;178719400;178719399 | chr2:179584128;179584127;179584126 |
| N2A | 6753 | 20482;20483;20484 | chr2:178719401;178719400;178719399 | chr2:179584128;179584127;179584126 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs776368998  |
None | 0.171 | N | 0.487 | 0.16 | 0.483448007585 | gnomAD-4.0.0 | 1.91592E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.51875E-05 | 0 | 0 |
| I/V | rs758227131 |
0.023 | None | N | 0.176 | 0.171 | 0.149567049428 | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | I | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| I/V | rs758227131 |
0.023 | None | N | 0.176 | 0.171 | 0.149567049428 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs758227131 |
0.023 | None | N | 0.176 | 0.171 | 0.149567049428 | gnomAD-4.0.0 | 8.05708E-06 | None | None | None | None | I | None | 0 | 8.33583E-05 | None | 0 | 0 | None | 0 | 0 | 6.78174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1053 | likely_benign | 0.1247 | benign | -0.741 | Destabilizing | None | N | 0.219 | neutral | None | None | None | None | I |
| I/C | 0.4041 | ambiguous | 0.4673 | ambiguous | -0.738 | Destabilizing | 0.356 | N | 0.428 | neutral | None | None | None | None | I |
| I/D | 0.2559 | likely_benign | 0.3033 | benign | -0.196 | Destabilizing | 0.072 | N | 0.486 | neutral | None | None | None | None | I |
| I/E | 0.2196 | likely_benign | 0.2659 | benign | -0.264 | Destabilizing | 0.072 | N | 0.492 | neutral | None | None | None | None | I |
| I/F | 0.0966 | likely_benign | 0.1173 | benign | -0.598 | Destabilizing | 0.171 | N | 0.354 | neutral | N | 0.501043126 | None | None | I |
| I/G | 0.2369 | likely_benign | 0.2884 | benign | -0.933 | Destabilizing | 0.038 | N | 0.501 | neutral | None | None | None | None | I |
| I/H | 0.2021 | likely_benign | 0.2509 | benign | -0.122 | Destabilizing | 0.864 | D | 0.471 | neutral | None | None | None | None | I |
| I/K | 0.1251 | likely_benign | 0.1529 | benign | -0.492 | Destabilizing | 0.072 | N | 0.509 | neutral | None | None | None | None | I |
| I/L | 0.0787 | likely_benign | 0.0887 | benign | -0.346 | Destabilizing | 0.005 | N | 0.246 | neutral | N | 0.430239034 | None | None | I |
| I/M | 0.0823 | likely_benign | 0.0962 | benign | -0.46 | Destabilizing | 0.171 | N | 0.368 | neutral | N | 0.490826133 | None | None | I |
| I/N | 0.0927 | likely_benign | 0.1117 | benign | -0.35 | Destabilizing | 0.171 | N | 0.487 | neutral | N | 0.458444355 | None | None | I |
| I/P | 0.193 | likely_benign | 0.2549 | benign | -0.445 | Destabilizing | 0.214 | N | 0.486 | neutral | None | None | None | None | I |
| I/Q | 0.1509 | likely_benign | 0.1832 | benign | -0.537 | Destabilizing | 0.214 | N | 0.486 | neutral | None | None | None | None | I |
| I/R | 0.0991 | likely_benign | 0.1196 | benign | 0.066 | Stabilizing | 0.214 | N | 0.488 | neutral | None | None | None | None | I |
| I/S | 0.0939 | likely_benign | 0.1095 | benign | -0.837 | Destabilizing | 0.001 | N | 0.329 | neutral | N | 0.449091366 | None | None | I |
| I/T | 0.0798 | likely_benign | 0.1082 | benign | -0.793 | Destabilizing | None | N | 0.228 | neutral | N | 0.42002204 | None | None | I |
| I/V | 0.0592 | likely_benign | 0.0632 | benign | -0.445 | Destabilizing | None | N | 0.176 | neutral | N | 0.421966267 | None | None | I |
| I/W | 0.5532 | ambiguous | 0.6453 | pathogenic | -0.617 | Destabilizing | 0.864 | D | 0.498 | neutral | None | None | None | None | I |
| I/Y | 0.25 | likely_benign | 0.2996 | benign | -0.385 | Destabilizing | 0.356 | N | 0.429 | neutral | None | None | None | None | I |
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.