Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33510 | 100753;100754;100755 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| N2AB | 31869 | 95830;95831;95832 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| N2A | 30942 | 93049;93050;93051 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| N2B | 24445 | 73558;73559;73560 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| Novex-1 | 24570 | 73933;73934;73935 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| Novex-2 | 24637 | 74134;74135;74136 | chr2:178536219;178536218;178536217 | chr2:179400946;179400945;179400944 |
| 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/H | rs1017116243  |
None | None | N | 0.218 | 0.111 | 0.207176502487 | gnomAD-4.0.0 | 6.84478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99675E-06 | 0 | 0 |
| Q/R | None | None | None | N | 0.209 | 0.14 | 0.197625483188 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4346E-05 | 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 | 0.2972 | likely_benign | 0.2766 | benign | -0.377 | Destabilizing | 0.029 | N | 0.439 | neutral | None | None | None | None | N |
| Q/C | 0.671 | likely_pathogenic | 0.5939 | pathogenic | 0.067 | Stabilizing | 0.778 | D | 0.533 | neutral | None | None | None | None | N |
| Q/D | 0.4523 | ambiguous | 0.4139 | ambiguous | 0.224 | Stabilizing | 0.009 | N | 0.331 | neutral | None | None | None | None | N |
| Q/E | 0.1186 | likely_benign | 0.1114 | benign | 0.216 | Stabilizing | 0.009 | N | 0.327 | neutral | N | 0.425678576 | None | None | N |
| Q/F | 0.795 | likely_pathogenic | 0.7632 | pathogenic | -0.554 | Destabilizing | 0.123 | N | 0.537 | neutral | None | None | None | None | N |
| Q/G | 0.2147 | likely_benign | 0.1977 | benign | -0.576 | Destabilizing | 0.056 | N | 0.437 | neutral | None | None | None | None | N |
| Q/H | 0.233 | likely_benign | 0.2042 | benign | -0.384 | Destabilizing | None | N | 0.218 | neutral | N | 0.414578935 | None | None | N |
| Q/I | 0.7689 | likely_pathogenic | 0.7406 | pathogenic | 0.062 | Stabilizing | 0.028 | N | 0.549 | neutral | None | None | None | None | N |
| Q/K | 0.0837 | likely_benign | 0.0765 | benign | 0.085 | Stabilizing | None | N | 0.144 | neutral | N | 0.391336716 | None | None | N |
| Q/L | 0.2135 | likely_benign | 0.2045 | benign | 0.062 | Stabilizing | None | N | 0.248 | neutral | N | 0.470605576 | None | None | N |
| Q/M | 0.4915 | ambiguous | 0.4778 | ambiguous | 0.294 | Stabilizing | 0.166 | N | 0.413 | neutral | None | None | None | None | N |
| Q/N | 0.2709 | likely_benign | 0.2396 | benign | -0.354 | Destabilizing | 0.001 | N | 0.196 | neutral | None | None | None | None | N |
| Q/P | 0.7004 | likely_pathogenic | 0.6027 | pathogenic | -0.056 | Destabilizing | 0.062 | N | 0.513 | neutral | N | 0.499965691 | None | None | N |
| Q/R | 0.1032 | likely_benign | 0.0939 | benign | 0.222 | Stabilizing | None | N | 0.209 | neutral | N | 0.456868275 | None | None | N |
| Q/S | 0.2967 | likely_benign | 0.2796 | benign | -0.379 | Destabilizing | 0.029 | N | 0.345 | neutral | None | None | None | None | N |
| Q/T | 0.3895 | ambiguous | 0.3609 | ambiguous | -0.216 | Destabilizing | 0.002 | N | 0.43 | neutral | None | None | None | None | N |
| Q/V | 0.6147 | likely_pathogenic | 0.5852 | pathogenic | -0.056 | Destabilizing | 0.008 | N | 0.457 | neutral | None | None | None | None | N |
| Q/W | 0.7967 | likely_pathogenic | 0.7681 | pathogenic | -0.498 | Destabilizing | 0.946 | D | 0.511 | neutral | None | None | None | None | N |
| Q/Y | 0.6054 | likely_pathogenic | 0.5583 | ambiguous | -0.25 | Destabilizing | 0.074 | N | 0.515 | 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.