Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5581 | 16966;16967;16968 | chr2:178732228;178732227;178732226 | chr2:179596955;179596954;179596953 |
| N2AB | 5264 | 16015;16016;16017 | chr2:178732228;178732227;178732226 | chr2:179596955;179596954;179596953 |
| N2A | 4337 | 13234;13235;13236 | chr2:178732228;178732227;178732226 | chr2:179596955;179596954;179596953 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs868601649  |
None | 0.989 | N | 0.449 | 0.286 | 0.166414681773 | gnomAD-4.0.0 | 3.1824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41313E-04 | 2.85819E-06 | 0 | 0 |
| D/V | rs1051626873 |
0.136 | 0.997 | N | 0.568 | 0.539 | 0.583646370046 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/V | rs1051626873 |
0.136 | 0.997 | N | 0.568 | 0.539 | 0.583646370046 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs1051626873 |
0.136 | 0.997 | N | 0.568 | 0.539 | 0.583646370046 | gnomAD-4.0.0 | 6.08957E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.22953E-06 | 0 | 0 |
| D/Y | None | None | 1.0 | N | 0.562 | 0.431 | 0.57809870819 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2524 | likely_benign | 0.3388 | benign | -0.314 | Destabilizing | 0.978 | D | 0.434 | neutral | N | 0.506079934 | None | None | N |
| D/C | 0.6873 | likely_pathogenic | 0.7839 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| D/E | 0.1675 | likely_benign | 0.2005 | benign | -0.205 | Destabilizing | 0.198 | N | 0.235 | neutral | N | 0.44300989 | None | None | N |
| D/F | 0.6098 | likely_pathogenic | 0.7172 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | N |
| D/G | 0.1304 | likely_benign | 0.1634 | benign | -0.526 | Destabilizing | 0.989 | D | 0.481 | neutral | N | 0.39921068 | None | None | N |
| D/H | 0.3056 | likely_benign | 0.3955 | ambiguous | 0.169 | Stabilizing | 1.0 | D | 0.457 | neutral | N | 0.475570796 | None | None | N |
| D/I | 0.4965 | ambiguous | 0.627 | pathogenic | 0.206 | Stabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| D/K | 0.3774 | ambiguous | 0.475 | ambiguous | 0.069 | Stabilizing | 0.983 | D | 0.479 | neutral | None | None | None | None | N |
| D/L | 0.4778 | ambiguous | 0.5876 | pathogenic | 0.206 | Stabilizing | 0.998 | D | 0.574 | neutral | None | None | None | None | N |
| D/M | 0.6613 | likely_pathogenic | 0.7698 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.554 | neutral | None | None | None | None | N |
| D/N | 0.1047 | likely_benign | 0.1299 | benign | -0.199 | Destabilizing | 0.989 | D | 0.449 | neutral | N | 0.469599059 | None | None | N |
| D/P | 0.8773 | likely_pathogenic | 0.9153 | pathogenic | 0.055 | Stabilizing | 0.999 | D | 0.486 | neutral | None | None | None | None | N |
| D/Q | 0.324 | likely_benign | 0.3903 | ambiguous | -0.135 | Destabilizing | 0.995 | D | 0.462 | neutral | None | None | None | None | N |
| D/R | 0.3726 | ambiguous | 0.4647 | ambiguous | 0.368 | Stabilizing | 0.995 | D | 0.497 | neutral | None | None | None | None | N |
| D/S | 0.1435 | likely_benign | 0.1877 | benign | -0.362 | Destabilizing | 0.983 | D | 0.419 | neutral | None | None | None | None | N |
| D/T | 0.3355 | likely_benign | 0.4387 | ambiguous | -0.191 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | N |
| D/V | 0.35 | ambiguous | 0.4615 | ambiguous | 0.055 | Stabilizing | 0.997 | D | 0.568 | neutral | N | 0.491054931 | None | None | N |
| D/W | 0.8557 | likely_pathogenic | 0.901 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| D/Y | 0.2361 | likely_benign | 0.3041 | benign | 0.141 | Stabilizing | 1.0 | D | 0.562 | neutral | N | 0.484218076 | 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.