Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20340 | 61243;61244;61245 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| N2AB | 18699 | 56320;56321;56322 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| N2A | 17772 | 53539;53540;53541 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| N2B | 11275 | 34048;34049;34050 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| Novex-1 | 11400 | 34423;34424;34425 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| Novex-2 | 11467 | 34624;34625;34626 | chr2:178590707;178590706;178590705 | chr2:179455434;179455433;179455432 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2050022624  |
None | 0.826 | N | 0.383 | 0.108 | 0.144782658237 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/A | rs2050022624 |
None | 0.826 | N | 0.383 | 0.108 | 0.144782658237 | gnomAD-4.0.0 | 3.71994E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64799E-04 | 2.54372E-06 | 1.09895E-05 | 1.602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0785 | likely_benign | 0.0864 | benign | -0.864 | Destabilizing | 0.826 | D | 0.383 | neutral | N | 0.477480328 | None | None | N |
| T/C | 0.2935 | likely_benign | 0.3241 | benign | -0.525 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | N |
| T/D | 0.3182 | likely_benign | 0.3392 | benign | -0.364 | Destabilizing | 0.046 | N | 0.173 | neutral | None | None | None | None | N |
| T/E | 0.2525 | likely_benign | 0.2594 | benign | -0.289 | Destabilizing | 0.079 | N | 0.167 | neutral | None | None | None | None | N |
| T/F | 0.1944 | likely_benign | 0.2384 | benign | -0.623 | Destabilizing | 0.997 | D | 0.533 | neutral | None | None | None | None | N |
| T/G | 0.2459 | likely_benign | 0.2755 | benign | -1.197 | Destabilizing | 0.939 | D | 0.43 | neutral | None | None | None | None | N |
| T/H | 0.2334 | likely_benign | 0.2709 | benign | -1.368 | Destabilizing | 0.991 | D | 0.524 | neutral | None | None | None | None | N |
| T/I | 0.1023 | likely_benign | 0.1147 | benign | -0.042 | Destabilizing | 0.996 | D | 0.409 | neutral | N | 0.47592289 | None | None | N |
| T/K | 0.2308 | likely_benign | 0.2335 | benign | -0.723 | Destabilizing | 0.92 | D | 0.381 | neutral | N | 0.457507701 | None | None | N |
| T/L | 0.0804 | likely_benign | 0.0891 | benign | -0.042 | Destabilizing | 0.969 | D | 0.346 | neutral | None | None | None | None | N |
| T/M | 0.0827 | likely_benign | 0.0925 | benign | 0.035 | Stabilizing | 0.999 | D | 0.436 | neutral | None | None | None | None | N |
| T/N | 0.1046 | likely_benign | 0.1124 | benign | -0.847 | Destabilizing | 0.17 | N | 0.147 | neutral | None | None | None | None | N |
| T/P | 0.1639 | likely_benign | 0.1664 | benign | -0.283 | Destabilizing | 0.996 | D | 0.405 | neutral | N | 0.503781495 | None | None | N |
| T/Q | 0.2169 | likely_benign | 0.2362 | benign | -0.844 | Destabilizing | 0.939 | D | 0.375 | neutral | None | None | None | None | N |
| T/R | 0.1915 | likely_benign | 0.2035 | benign | -0.639 | Destabilizing | 0.92 | D | 0.403 | neutral | N | 0.471650434 | None | None | N |
| T/S | 0.098 | likely_benign | 0.1063 | benign | -1.133 | Destabilizing | 0.826 | D | 0.431 | neutral | N | 0.414642358 | None | None | N |
| T/V | 0.095 | likely_benign | 0.1053 | benign | -0.283 | Destabilizing | 0.969 | D | 0.379 | neutral | None | None | None | None | N |
| T/W | 0.4994 | ambiguous | 0.5706 | pathogenic | -0.632 | Destabilizing | 0.999 | D | 0.566 | neutral | None | None | None | None | N |
| T/Y | 0.2091 | likely_benign | 0.2396 | benign | -0.374 | Destabilizing | 0.997 | D | 0.534 | 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.