Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15309 | 46150;46151;46152 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| N2AB | 13668 | 41227;41228;41229 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| N2A | 12741 | 38446;38447;38448 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| N2B | 6244 | 18955;18956;18957 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| Novex-1 | 6369 | 19330;19331;19332 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| Novex-2 | 6436 | 19531;19532;19533 | chr2:178620596;178620595;178620594 | chr2:179485323;179485322;179485321 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs2154211123  |
None | 0.175 | N | 0.335 | 0.192 | 0.276482976112 | gnomAD-4.0.0 | 1.59939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86979E-06 | 0 | 0 |
| K/T | rs540113938 |
-0.671 | 0.175 | N | 0.384 | 0.238 | 0.349429436713 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs540113938 |
-0.671 | 0.175 | N | 0.384 | 0.238 | 0.349429436713 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs540113938 |
-0.671 | 0.175 | N | 0.384 | 0.238 | 0.349429436713 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/T | rs540113938 |
-0.671 | 0.175 | N | 0.384 | 0.238 | 0.349429436713 | gnomAD-4.0.0 | 2.5731E-06 | None | None | None | None | N | None | 1.69492E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40177E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2544 | likely_benign | 0.301 | benign | -0.422 | Destabilizing | 0.055 | N | 0.363 | neutral | None | None | None | None | N |
| K/C | 0.7183 | likely_pathogenic | 0.7596 | pathogenic | -0.529 | Destabilizing | 0.958 | D | 0.423 | neutral | None | None | None | None | N |
| K/D | 0.358 | ambiguous | 0.4671 | ambiguous | -0.078 | Destabilizing | 0.055 | N | 0.372 | neutral | None | None | None | None | N |
| K/E | 0.0889 | likely_benign | 0.1059 | benign | 0.034 | Stabilizing | None | N | 0.143 | neutral | N | 0.399023188 | None | None | N |
| K/F | 0.7963 | likely_pathogenic | 0.772 | pathogenic | -0.197 | Destabilizing | 0.859 | D | 0.453 | neutral | None | None | None | None | N |
| K/G | 0.3594 | ambiguous | 0.4058 | ambiguous | -0.73 | Destabilizing | 0.22 | N | 0.404 | neutral | None | None | None | None | N |
| K/H | 0.3134 | likely_benign | 0.324 | benign | -0.805 | Destabilizing | 0.497 | N | 0.437 | neutral | None | None | None | None | N |
| K/I | 0.35 | ambiguous | 0.3503 | ambiguous | 0.361 | Stabilizing | 0.602 | D | 0.468 | neutral | N | 0.515899667 | None | None | N |
| K/L | 0.3295 | likely_benign | 0.3241 | benign | 0.361 | Stabilizing | 0.22 | N | 0.391 | neutral | None | None | None | None | N |
| K/M | 0.2545 | likely_benign | 0.2373 | benign | -0.123 | Destabilizing | 0.667 | D | 0.423 | neutral | None | None | None | None | N |
| K/N | 0.287 | likely_benign | 0.2965 | benign | -0.3 | Destabilizing | 0.175 | N | 0.335 | neutral | N | 0.51854661 | None | None | N |
| K/P | 0.5451 | ambiguous | 0.6998 | pathogenic | 0.128 | Stabilizing | 0.364 | N | 0.439 | neutral | None | None | None | None | N |
| K/Q | 0.1195 | likely_benign | 0.1157 | benign | -0.273 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.498183777 | None | None | N |
| K/R | 0.1061 | likely_benign | 0.0963 | benign | -0.253 | Destabilizing | 0.001 | N | 0.101 | neutral | N | 0.497410261 | None | None | N |
| K/S | 0.2997 | likely_benign | 0.3349 | benign | -0.812 | Destabilizing | 0.055 | N | 0.347 | neutral | None | None | None | None | N |
| K/T | 0.1398 | likely_benign | 0.1462 | benign | -0.508 | Destabilizing | 0.175 | N | 0.384 | neutral | N | 0.512943997 | None | None | N |
| K/V | 0.2793 | likely_benign | 0.3144 | benign | 0.128 | Stabilizing | 0.22 | N | 0.403 | neutral | None | None | None | None | N |
| K/W | 0.8125 | likely_pathogenic | 0.7718 | pathogenic | -0.186 | Destabilizing | 0.958 | D | 0.441 | neutral | None | None | None | None | N |
| K/Y | 0.6387 | likely_pathogenic | 0.6416 | pathogenic | 0.103 | Stabilizing | 0.667 | D | 0.444 | 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.