Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27253 | 81982;81983;81984 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| N2AB | 25612 | 77059;77060;77061 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| N2A | 24685 | 74278;74279;74280 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| N2B | 18188 | 54787;54788;54789 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| Novex-1 | 18313 | 55162;55163;55164 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| Novex-2 | 18380 | 55363;55364;55365 | chr2:178564375;178564374;178564373 | chr2:179429102;179429101;179429100 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 0.285 | N | 0.167 | 0.083 | 0.101711395817 | gnomAD-4.0.0 | 2.73706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69844E-06 | 0 | 1.65667E-05 |
| N/S | rs529055709  |
-0.258 | 0.002 | N | 0.105 | 0.088 | 0.0884992946249 | gnomAD-2.1.1 | 1.25061E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.80357E-03 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs529055709 |
-0.258 | 0.002 | N | 0.105 | 0.088 | 0.0884992946249 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 2.12519E-03 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs529055709 |
-0.258 | 0.002 | N | 0.105 | 0.088 | 0.0884992946249 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| N/S | rs529055709 |
-0.258 | 0.002 | N | 0.105 | 0.088 | 0.0884992946249 | gnomAD-4.0.0 | 2.97456E-05 | None | None | None | None | N | None | 0 | 1.66733E-05 | None | 0 | 1.005E-03 | None | 0 | 0 | 8.47636E-07 | 0 | 1.60056E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1618 | likely_benign | 0.1685 | benign | -0.902 | Destabilizing | 0.103 | N | 0.221 | neutral | None | None | None | None | N |
| N/C | 0.1077 | likely_benign | 0.1437 | benign | 0.077 | Stabilizing | 0.004 | N | 0.234 | neutral | None | None | None | None | N |
| N/D | 0.2457 | likely_benign | 0.228 | benign | -0.529 | Destabilizing | 0.285 | N | 0.179 | neutral | N | 0.437911581 | None | None | N |
| N/E | 0.4546 | ambiguous | 0.4525 | ambiguous | -0.505 | Destabilizing | 0.345 | N | 0.166 | neutral | None | None | None | None | N |
| N/F | 0.3132 | likely_benign | 0.3487 | ambiguous | -1.045 | Destabilizing | 0.722 | D | 0.485 | neutral | None | None | None | None | N |
| N/G | 0.3189 | likely_benign | 0.317 | benign | -1.154 | Destabilizing | 0.209 | N | 0.211 | neutral | None | None | None | None | N |
| N/H | 0.1002 | likely_benign | 0.1116 | benign | -1.115 | Destabilizing | 0.954 | D | 0.313 | neutral | N | 0.469407923 | None | None | N |
| N/I | 0.0716 | likely_benign | 0.0822 | benign | -0.294 | Destabilizing | 0.005 | N | 0.217 | neutral | N | 0.37749784 | None | None | N |
| N/K | 0.37 | ambiguous | 0.3982 | ambiguous | -0.181 | Destabilizing | 0.285 | N | 0.167 | neutral | N | 0.424480923 | None | None | N |
| N/L | 0.1213 | likely_benign | 0.1408 | benign | -0.294 | Destabilizing | 0.103 | N | 0.267 | neutral | None | None | None | None | N |
| N/M | 0.198 | likely_benign | 0.2252 | benign | 0.4 | Stabilizing | 0.901 | D | 0.417 | neutral | None | None | None | None | N |
| N/P | 0.8761 | likely_pathogenic | 0.8642 | pathogenic | -0.47 | Destabilizing | 0.722 | D | 0.404 | neutral | None | None | None | None | N |
| N/Q | 0.3116 | likely_benign | 0.3412 | ambiguous | -0.853 | Destabilizing | 0.561 | D | 0.289 | neutral | None | None | None | None | N |
| N/R | 0.3702 | ambiguous | 0.4068 | ambiguous | -0.084 | Destabilizing | 0.561 | D | 0.243 | neutral | None | None | None | None | N |
| N/S | 0.0784 | likely_benign | 0.0761 | benign | -0.652 | Destabilizing | 0.002 | N | 0.105 | neutral | N | 0.39531281 | None | None | N |
| N/T | 0.0872 | likely_benign | 0.0906 | benign | -0.456 | Destabilizing | 0.005 | N | 0.159 | neutral | N | 0.396891677 | None | None | N |
| N/V | 0.0785 | likely_benign | 0.0919 | benign | -0.47 | Destabilizing | 0.103 | N | 0.289 | neutral | None | None | None | None | N |
| N/W | 0.7138 | likely_pathogenic | 0.7479 | pathogenic | -0.842 | Destabilizing | 0.991 | D | 0.444 | neutral | None | None | None | None | N |
| N/Y | 0.1104 | likely_benign | 0.1254 | benign | -0.635 | Destabilizing | 0.954 | D | 0.47 | neutral | N | 0.441298602 | 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.