Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30913 | 92962;92963;92964 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| N2AB | 29272 | 88039;88040;88041 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| N2A | 28345 | 85258;85259;85260 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| N2B | 21848 | 65767;65768;65769 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| Novex-1 | 21973 | 66142;66143;66144 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| Novex-2 | 22040 | 66343;66344;66345 | chr2:178548889;178548888;178548887 | chr2:179413616;179413615;179413614 |
| 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/I | rs778462222  |
0.039 | None | N | 0.148 | 0.136 | 0.309530620856 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs778462222 |
0.039 | None | N | 0.148 | 0.136 | 0.309530620856 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs778462222 |
None | 0.011 | N | 0.313 | 0.189 | 0.256283259241 | gnomAD-4.0.0 | 3.18267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54847E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0617 | likely_benign | 0.0633 | benign | -0.438 | Destabilizing | None | N | 0.092 | neutral | N | 0.44333883 | None | None | N |
| T/C | 0.245 | likely_benign | 0.2608 | benign | -0.365 | Destabilizing | 0.204 | N | 0.318 | neutral | None | None | None | None | N |
| T/D | 0.2314 | likely_benign | 0.247 | benign | 0.379 | Stabilizing | 0.035 | N | 0.358 | neutral | None | None | None | None | N |
| T/E | 0.1967 | likely_benign | 0.2093 | benign | 0.334 | Stabilizing | 0.015 | N | 0.28 | neutral | None | None | None | None | N |
| T/F | 0.1644 | likely_benign | 0.174 | benign | -0.74 | Destabilizing | 0.035 | N | 0.617 | neutral | None | None | None | None | N |
| T/G | 0.1547 | likely_benign | 0.1749 | benign | -0.619 | Destabilizing | 0.007 | N | 0.257 | neutral | None | None | None | None | N |
| T/H | 0.1822 | likely_benign | 0.1917 | benign | -0.845 | Destabilizing | 0.439 | N | 0.497 | neutral | None | None | None | None | N |
| T/I | 0.0948 | likely_benign | 0.0911 | benign | -0.074 | Destabilizing | None | N | 0.148 | neutral | N | 0.479866205 | None | None | N |
| T/K | 0.1489 | likely_benign | 0.1555 | benign | -0.372 | Destabilizing | 0.011 | N | 0.313 | neutral | N | 0.461289872 | None | None | N |
| T/L | 0.0738 | likely_benign | 0.0762 | benign | -0.074 | Destabilizing | 0.001 | N | 0.205 | neutral | None | None | None | None | N |
| T/M | 0.0822 | likely_benign | 0.0824 | benign | -0.008 | Destabilizing | 0.112 | N | 0.343 | neutral | None | None | None | None | N |
| T/N | 0.0832 | likely_benign | 0.0846 | benign | -0.204 | Destabilizing | 0.035 | N | 0.272 | neutral | None | None | None | None | N |
| T/P | 0.064 | likely_benign | 0.0666 | benign | -0.164 | Destabilizing | None | N | 0.159 | neutral | N | 0.40405251 | None | None | N |
| T/Q | 0.1665 | likely_benign | 0.1728 | benign | -0.385 | Destabilizing | 0.068 | N | 0.494 | neutral | None | None | None | None | N |
| T/R | 0.1335 | likely_benign | 0.1447 | benign | -0.137 | Destabilizing | 0.026 | N | 0.459 | neutral | N | 0.505523439 | None | None | N |
| T/S | 0.0833 | likely_benign | 0.0879 | benign | -0.489 | Destabilizing | None | N | 0.169 | neutral | N | 0.424369067 | None | None | N |
| T/V | 0.0882 | likely_benign | 0.0841 | benign | -0.164 | Destabilizing | None | N | 0.086 | neutral | None | None | None | None | N |
| T/W | 0.4748 | ambiguous | 0.5223 | ambiguous | -0.706 | Destabilizing | 0.747 | D | 0.556 | neutral | None | None | None | None | N |
| T/Y | 0.1928 | likely_benign | 0.2128 | benign | -0.436 | Destabilizing | 0.204 | N | 0.603 | 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.