Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15090 | 45493;45494;45495 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| N2AB | 13449 | 40570;40571;40572 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| N2A | 12522 | 37789;37790;37791 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| N2B | 6025 | 18298;18299;18300 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| Novex-1 | 6150 | 18673;18674;18675 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| Novex-2 | 6217 | 18874;18875;18876 | chr2:178621556;178621555;178621554 | chr2:179486283;179486282;179486281 |
| 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 | None | None | 0.002 | N | 0.081 | 0.24 | 0.292062946507 | gnomAD-4.0.0 | 6.8468E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| Q/K | rs397517579  |
-0.027 | 0.01 | N | 0.105 | 0.184 | 0.181679512989 | gnomAD-2.1.1 | 1.25051E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.01347E-03 | None | 0 | 0 | 0 |
| Q/K | rs397517579 |
-0.027 | 0.01 | N | 0.105 | 0.184 | 0.181679512989 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21633E-04 | 0 |
| Q/K | rs397517579 |
-0.027 | 0.01 | N | 0.105 | 0.184 | 0.181679512989 | gnomAD-4.0.0 | 6.63619E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16414E-03 | 1.60308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2707 | likely_benign | 0.3042 | benign | -0.453 | Destabilizing | 0.329 | N | 0.335 | neutral | None | None | None | None | N |
| Q/C | 0.6691 | likely_pathogenic | 0.7327 | pathogenic | 0.157 | Stabilizing | 0.995 | D | 0.429 | neutral | None | None | None | None | N |
| Q/D | 0.3856 | ambiguous | 0.4284 | ambiguous | -0.467 | Destabilizing | 0.495 | N | 0.249 | neutral | None | None | None | None | N |
| Q/E | 0.1024 | likely_benign | 0.0991 | benign | -0.429 | Destabilizing | 0.244 | N | 0.241 | neutral | N | 0.494877591 | None | None | N |
| Q/F | 0.7355 | likely_pathogenic | 0.7893 | pathogenic | -0.339 | Destabilizing | 0.944 | D | 0.479 | neutral | None | None | None | None | N |
| Q/G | 0.2509 | likely_benign | 0.2836 | benign | -0.756 | Destabilizing | 0.329 | N | 0.377 | neutral | None | None | None | None | N |
| Q/H | 0.1922 | likely_benign | 0.2154 | benign | -0.749 | Destabilizing | 0.002 | N | 0.081 | neutral | N | 0.447562077 | None | None | N |
| Q/I | 0.549 | ambiguous | 0.5803 | pathogenic | 0.291 | Stabilizing | 0.944 | D | 0.502 | neutral | None | None | None | None | N |
| Q/K | 0.0881 | likely_benign | 0.0892 | benign | -0.242 | Destabilizing | 0.01 | N | 0.105 | neutral | N | 0.413839751 | None | None | N |
| Q/L | 0.2175 | likely_benign | 0.2396 | benign | 0.291 | Stabilizing | 0.425 | N | 0.417 | neutral | N | 0.487008121 | None | None | N |
| Q/M | 0.5156 | ambiguous | 0.548 | ambiguous | 0.77 | Stabilizing | 0.981 | D | 0.374 | neutral | None | None | None | None | N |
| Q/N | 0.2499 | likely_benign | 0.2993 | benign | -0.652 | Destabilizing | 0.495 | N | 0.251 | neutral | None | None | None | None | N |
| Q/P | 0.1719 | likely_benign | 0.1894 | benign | 0.074 | Stabilizing | 0.784 | D | 0.441 | neutral | N | 0.494703273 | None | None | N |
| Q/R | 0.0923 | likely_benign | 0.0958 | benign | -0.141 | Destabilizing | 0.002 | N | 0.077 | neutral | N | 0.379845233 | None | None | N |
| Q/S | 0.2363 | likely_benign | 0.2876 | benign | -0.683 | Destabilizing | 0.013 | N | 0.101 | neutral | None | None | None | None | N |
| Q/T | 0.2384 | likely_benign | 0.2652 | benign | -0.465 | Destabilizing | 0.329 | N | 0.379 | neutral | None | None | None | None | N |
| Q/V | 0.402 | ambiguous | 0.4352 | ambiguous | 0.074 | Stabilizing | 0.704 | D | 0.436 | neutral | None | None | None | None | N |
| Q/W | 0.5462 | ambiguous | 0.5892 | pathogenic | -0.247 | Destabilizing | 0.995 | D | 0.428 | neutral | None | None | None | None | N |
| Q/Y | 0.4913 | ambiguous | 0.5496 | ambiguous | -0.022 | Destabilizing | 0.704 | D | 0.471 | 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.