Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14381 | 43366;43367;43368 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| N2AB | 12740 | 38443;38444;38445 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| N2A | 11813 | 35662;35663;35664 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| N2B | 5316 | 16171;16172;16173 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| Novex-1 | 5441 | 16546;16547;16548 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| Novex-2 | 5508 | 16747;16748;16749 | chr2:178632990;178632989;178632988 | chr2:179497717;179497716;179497715 |
| 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 | rs754568652  |
0.077 | 0.002 | N | 0.124 | 0.112 | 0.128392430309 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs754568652 |
0.077 | 0.002 | N | 0.124 | 0.112 | 0.128392430309 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78071E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs1433049624 |
0.325 | 0.011 | N | 0.403 | 0.124 | 0.192905019026 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/L | rs1433049624 |
0.325 | 0.011 | N | 0.403 | 0.124 | 0.192905019026 | gnomAD-4.0.0 | 1.3689E-06 | None | None | None | None | N | None | 5.98158E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2392 | likely_benign | 0.1972 | benign | -0.532 | Destabilizing | 0.006 | N | 0.251 | neutral | None | None | None | None | N |
| Q/C | 0.5976 | likely_pathogenic | 0.5468 | ambiguous | 0.178 | Stabilizing | 0.747 | D | 0.481 | neutral | None | None | None | None | N |
| Q/D | 0.3044 | likely_benign | 0.2595 | benign | -0.333 | Destabilizing | 0.015 | N | 0.196 | neutral | None | None | None | None | N |
| Q/E | 0.0856 | likely_benign | 0.0785 | benign | -0.305 | Destabilizing | 0.002 | N | 0.124 | neutral | N | 0.433406748 | None | None | N |
| Q/F | 0.6529 | likely_pathogenic | 0.5935 | pathogenic | -0.493 | Destabilizing | 0.204 | N | 0.629 | neutral | None | None | None | None | N |
| Q/G | 0.2799 | likely_benign | 0.2257 | benign | -0.818 | Destabilizing | 0.015 | N | 0.33 | neutral | None | None | None | None | N |
| Q/H | 0.1706 | likely_benign | 0.154 | benign | -0.792 | Destabilizing | None | N | 0.111 | neutral | N | 0.423835432 | None | None | N |
| Q/I | 0.391 | ambiguous | 0.3667 | ambiguous | 0.163 | Stabilizing | 0.068 | N | 0.591 | neutral | None | None | None | None | N |
| Q/K | 0.0679 | likely_benign | 0.0674 | benign | -0.224 | Destabilizing | None | N | 0.06 | neutral | N | 0.372394702 | None | None | N |
| Q/L | 0.141 | likely_benign | 0.1266 | benign | 0.163 | Stabilizing | 0.011 | N | 0.403 | neutral | N | 0.432205437 | None | None | N |
| Q/M | 0.3759 | ambiguous | 0.3422 | ambiguous | 0.677 | Stabilizing | 0.439 | N | 0.327 | neutral | None | None | None | None | N |
| Q/N | 0.2281 | likely_benign | 0.201 | benign | -0.638 | Destabilizing | 0.015 | N | 0.231 | neutral | None | None | None | None | N |
| Q/P | 0.1846 | likely_benign | 0.1723 | benign | -0.038 | Destabilizing | 0.052 | N | 0.48 | neutral | N | 0.436137475 | None | None | N |
| Q/R | 0.084 | likely_benign | 0.0791 | benign | -0.109 | Destabilizing | None | N | 0.05 | neutral | N | 0.336037062 | None | None | N |
| Q/S | 0.2119 | likely_benign | 0.1785 | benign | -0.667 | Destabilizing | 0.015 | N | 0.161 | neutral | None | None | None | None | N |
| Q/T | 0.1788 | likely_benign | 0.155 | benign | -0.458 | Destabilizing | 0.015 | N | 0.376 | neutral | None | None | None | None | N |
| Q/V | 0.271 | likely_benign | 0.2415 | benign | -0.038 | Destabilizing | 0.035 | N | 0.515 | neutral | None | None | None | None | N |
| Q/W | 0.5335 | ambiguous | 0.4671 | ambiguous | -0.4 | Destabilizing | 0.747 | D | 0.511 | neutral | None | None | None | None | N |
| Q/Y | 0.4397 | ambiguous | 0.3817 | ambiguous | -0.182 | Destabilizing | 0.035 | N | 0.521 | 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.