Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28731 | 86416;86417;86418 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| N2AB | 27090 | 81493;81494;81495 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| N2A | 26163 | 78712;78713;78714 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| N2B | 19666 | 59221;59222;59223 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| Novex-1 | 19791 | 59596;59597;59598 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| Novex-2 | 19858 | 59797;59798;59799 | chr2:178559941;178559940;178559939 | chr2:179424668;179424667;179424666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1174709364  |
-0.246 | None | N | 0.203 | 0.145 | 0.346544149963 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1174709364 |
-0.246 | None | N | 0.203 | 0.145 | 0.346544149963 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | I | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | None | None | 0.317 | N | 0.458 | 0.091 | 0.622868823884 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| V/I | rs761563884 |
-0.046 | None | N | 0.149 | 0.072 | 0.233785782151 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/I | rs761563884 |
-0.046 | None | N | 0.149 | 0.072 | 0.233785782151 | gnomAD-4.0.0 | 7.95664E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 1.14328E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1156 | likely_benign | 0.1027 | benign | -0.474 | Destabilizing | None | N | 0.203 | neutral | N | 0.419162743 | None | None | I |
| V/C | 0.6583 | likely_pathogenic | 0.6952 | pathogenic | -0.83 | Destabilizing | 0.824 | D | 0.447 | neutral | None | None | None | None | I |
| V/D | 0.5651 | likely_pathogenic | 0.5823 | pathogenic | -0.374 | Destabilizing | 0.484 | N | 0.57 | neutral | N | 0.474736146 | None | None | I |
| V/E | 0.3843 | ambiguous | 0.4136 | ambiguous | -0.481 | Destabilizing | 0.38 | N | 0.548 | neutral | None | None | None | None | I |
| V/F | 0.1677 | likely_benign | 0.1814 | benign | -0.677 | Destabilizing | 0.317 | N | 0.458 | neutral | N | 0.505533721 | None | None | I |
| V/G | 0.269 | likely_benign | 0.2851 | benign | -0.582 | Destabilizing | 0.062 | N | 0.54 | neutral | N | 0.499066322 | None | None | I |
| V/H | 0.5987 | likely_pathogenic | 0.6382 | pathogenic | -0.028 | Destabilizing | 0.935 | D | 0.551 | neutral | None | None | None | None | I |
| V/I | 0.0748 | likely_benign | 0.077 | benign | -0.335 | Destabilizing | None | N | 0.149 | neutral | N | 0.429881169 | None | None | I |
| V/K | 0.4694 | ambiguous | 0.5239 | ambiguous | -0.514 | Destabilizing | 0.38 | N | 0.534 | neutral | None | None | None | None | I |
| V/L | 0.1972 | likely_benign | 0.2406 | benign | -0.335 | Destabilizing | 0.004 | N | 0.259 | neutral | N | 0.496663522 | None | None | I |
| V/M | 0.1145 | likely_benign | 0.1616 | benign | -0.542 | Destabilizing | 0.002 | N | 0.299 | neutral | None | None | None | None | I |
| V/N | 0.3604 | ambiguous | 0.3767 | ambiguous | -0.355 | Destabilizing | 0.555 | D | 0.569 | neutral | None | None | None | None | I |
| V/P | 0.8299 | likely_pathogenic | 0.8404 | pathogenic | -0.349 | Destabilizing | 0.555 | D | 0.564 | neutral | None | None | None | None | I |
| V/Q | 0.3777 | ambiguous | 0.4469 | ambiguous | -0.578 | Destabilizing | 0.38 | N | 0.559 | neutral | None | None | None | None | I |
| V/R | 0.392 | ambiguous | 0.4295 | ambiguous | 0.024 | Stabilizing | 0.38 | N | 0.575 | neutral | None | None | None | None | I |
| V/S | 0.2152 | likely_benign | 0.2179 | benign | -0.699 | Destabilizing | 0.081 | N | 0.547 | neutral | None | None | None | None | I |
| V/T | 0.157 | likely_benign | 0.1648 | benign | -0.707 | Destabilizing | 0.149 | N | 0.289 | neutral | None | None | None | None | I |
| V/W | 0.7676 | likely_pathogenic | 0.8371 | pathogenic | -0.735 | Destabilizing | 0.935 | D | 0.597 | neutral | None | None | None | None | I |
| V/Y | 0.5384 | ambiguous | 0.5804 | pathogenic | -0.461 | Destabilizing | 0.555 | D | 0.461 | 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.