Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4656 | 14191;14192;14193 | chr2:178739267;178739266;178739265 | chr2:179603994;179603993;179603992 |
| N2AB | 4339 | 13240;13241;13242 | chr2:178739267;178739266;178739265 | chr2:179603994;179603993;179603992 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4293 | 13102;13103;13104 | chr2:178739267;178739266;178739265 | chr2:179603994;179603993;179603992 |
| Novex-1 | 4418 | 13477;13478;13479 | chr2:178739267;178739266;178739265 | chr2:179603994;179603993;179603992 |
| Novex-2 | 4485 | 13678;13679;13680 | chr2:178739267;178739266;178739265 | chr2:179603994;179603993;179603992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs747289468  |
-0.06 | None | N | 0.083 | 0.076 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.1241E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs747289468 |
-0.06 | None | N | 0.083 | 0.076 | None | gnomAD-4.0.0 | 3.42936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.01261E-04 | None | 0 | 0 | 9.01539E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1607 | likely_benign | 0.186 | benign | -0.092 | Destabilizing | 0.004 | N | 0.191 | neutral | None | None | None | None | N |
| Q/C | 0.4577 | ambiguous | 0.5085 | ambiguous | 0.202 | Stabilizing | 0.788 | D | 0.175 | neutral | None | None | None | None | N |
| Q/D | 0.1643 | likely_benign | 0.1819 | benign | -0.107 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| Q/E | 0.0648 | likely_benign | 0.0687 | benign | -0.163 | Destabilizing | None | N | 0.083 | neutral | N | 0.438647339 | None | None | N |
| Q/F | 0.5464 | ambiguous | 0.5968 | pathogenic | -0.444 | Destabilizing | 0.138 | N | 0.312 | neutral | None | None | None | None | N |
| Q/G | 0.1285 | likely_benign | 0.1413 | benign | -0.224 | Destabilizing | None | N | 0.093 | neutral | None | None | None | None | N |
| Q/H | 0.1547 | likely_benign | 0.1652 | benign | -0.104 | Destabilizing | None | N | 0.071 | neutral | N | 0.442457261 | None | None | N |
| Q/I | 0.3099 | likely_benign | 0.3635 | ambiguous | 0.159 | Stabilizing | 0.085 | N | 0.342 | neutral | None | None | None | None | N |
| Q/K | 0.0688 | likely_benign | 0.07 | benign | 0.091 | Stabilizing | None | N | 0.08 | neutral | N | 0.433746996 | None | None | N |
| Q/L | 0.1341 | likely_benign | 0.1544 | benign | 0.159 | Stabilizing | 0.014 | N | 0.192 | neutral | N | 0.433527331 | None | None | N |
| Q/M | 0.2802 | likely_benign | 0.3186 | benign | 0.321 | Stabilizing | 0.497 | N | 0.193 | neutral | None | None | None | None | N |
| Q/N | 0.1508 | likely_benign | 0.1619 | benign | -0.039 | Destabilizing | 0.009 | N | 0.148 | neutral | None | None | None | None | N |
| Q/P | 0.1381 | likely_benign | 0.1703 | benign | 0.1 | Stabilizing | 0.065 | N | 0.309 | neutral | N | 0.44378608 | None | None | N |
| Q/R | 0.084 | likely_benign | 0.0889 | benign | 0.288 | Stabilizing | None | N | 0.113 | neutral | N | 0.445098909 | None | None | N |
| Q/S | 0.1499 | likely_benign | 0.1719 | benign | -0.054 | Destabilizing | 0.004 | N | 0.145 | neutral | None | None | None | None | N |
| Q/T | 0.1486 | likely_benign | 0.1764 | benign | 0.016 | Stabilizing | 0.018 | N | 0.231 | neutral | None | None | None | None | N |
| Q/V | 0.2246 | likely_benign | 0.2671 | benign | 0.1 | Stabilizing | 0.018 | N | 0.213 | neutral | None | None | None | None | N |
| Q/W | 0.4042 | ambiguous | 0.449 | ambiguous | -0.493 | Destabilizing | 0.788 | D | 0.189 | neutral | None | None | None | None | N |
| Q/Y | 0.3411 | ambiguous | 0.3743 | ambiguous | -0.213 | Destabilizing | 0.022 | N | 0.321 | 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.