Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32811 | 98656;98657;98658 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| N2AB | 31170 | 93733;93734;93735 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| N2A | 30243 | 90952;90953;90954 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| N2B | 23746 | 71461;71462;71463 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| Novex-1 | 23871 | 71836;71837;71838 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| Novex-2 | 23938 | 72037;72038;72039 | chr2:178539634;178539633;178539632 | chr2:179404361;179404360;179404359 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs371807358  |
-0.535 | 1.0 | N | 0.617 | 0.371 | None | gnomAD-2.1.1 | 8.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.01E-05 | 1.80223E-04 | 0 |
| R/C | rs371807358 |
-0.535 | 1.0 | N | 0.617 | 0.371 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.41E-05 | 1.30976E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.32322E-04 | 0 | 0 |
| R/C | rs371807358 |
-0.535 | 1.0 | N | 0.617 | 0.371 | None | gnomAD-4.0.0 | 9.11005E-05 | None | None | None | None | N | None | 1.33543E-05 | 3.33389E-05 | None | 3.37792E-05 | 0 | None | 0 | 0 | 1.14427E-04 | 1.09806E-05 | 1.12072E-04 |
| R/H | rs751450347 |
-1.258 | 0.997 | N | 0.485 | 0.258 | 0.293147016451 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 3.56E-05 | 0 |
| R/H | rs751450347 |
-1.258 | 0.997 | N | 0.485 | 0.258 | 0.293147016451 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/H | rs751450347 |
-1.258 | 0.997 | N | 0.485 | 0.258 | 0.293147016451 | gnomAD-4.0.0 | 1.36341E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22816E-05 | None | 0 | 0 | 1.01713E-05 | 7.68521E-05 | 3.20205E-05 |
| R/L | None | None | 0.956 | N | 0.519 | 0.29 | 0.631438196984 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31868E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5502 | ambiguous | 0.4957 | ambiguous | -0.302 | Destabilizing | 0.702 | D | 0.572 | neutral | None | None | None | None | N |
| R/C | 0.2682 | likely_benign | 0.236 | benign | -0.334 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.472547327 | None | None | N |
| R/D | 0.6209 | likely_pathogenic | 0.6 | pathogenic | 0.09 | Stabilizing | 0.919 | D | 0.505 | neutral | None | None | None | None | N |
| R/E | 0.5098 | ambiguous | 0.4737 | ambiguous | 0.185 | Stabilizing | 0.851 | D | 0.511 | neutral | None | None | None | None | N |
| R/F | 0.7413 | likely_pathogenic | 0.6757 | pathogenic | -0.325 | Destabilizing | 0.996 | D | 0.598 | neutral | None | None | None | None | N |
| R/G | 0.231 | likely_benign | 0.2117 | benign | -0.558 | Destabilizing | 0.956 | D | 0.521 | neutral | N | 0.476864253 | None | None | N |
| R/H | 0.1245 | likely_benign | 0.1151 | benign | -0.937 | Destabilizing | 0.997 | D | 0.485 | neutral | N | 0.47236251 | None | None | N |
| R/I | 0.6466 | likely_pathogenic | 0.573 | pathogenic | 0.358 | Stabilizing | 0.988 | D | 0.597 | neutral | None | None | None | None | N |
| R/K | 0.1584 | likely_benign | 0.1443 | benign | -0.292 | Destabilizing | 0.702 | D | 0.501 | neutral | None | None | None | None | N |
| R/L | 0.4292 | ambiguous | 0.3816 | ambiguous | 0.358 | Stabilizing | 0.956 | D | 0.519 | neutral | N | 0.478788297 | None | None | N |
| R/M | 0.5168 | ambiguous | 0.4588 | ambiguous | -0.053 | Destabilizing | 0.997 | D | 0.531 | neutral | None | None | None | None | N |
| R/N | 0.496 | ambiguous | 0.4688 | ambiguous | 0.087 | Stabilizing | 0.919 | D | 0.529 | neutral | None | None | None | None | N |
| R/P | 0.8238 | likely_pathogenic | 0.7703 | pathogenic | 0.16 | Stabilizing | 0.994 | D | 0.571 | neutral | N | 0.490398092 | None | None | N |
| R/Q | 0.1446 | likely_benign | 0.1334 | benign | -0.053 | Destabilizing | 0.261 | N | 0.253 | neutral | None | None | None | None | N |
| R/S | 0.5137 | ambiguous | 0.4732 | ambiguous | -0.49 | Destabilizing | 0.46 | N | 0.309 | neutral | N | 0.427934155 | None | None | N |
| R/T | 0.3774 | ambiguous | 0.3249 | benign | -0.234 | Destabilizing | 0.851 | D | 0.545 | neutral | None | None | None | None | N |
| R/V | 0.6872 | likely_pathogenic | 0.6208 | pathogenic | 0.16 | Stabilizing | 0.976 | D | 0.545 | neutral | None | None | None | None | N |
| R/W | 0.3358 | likely_benign | 0.2785 | benign | -0.186 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/Y | 0.5256 | ambiguous | 0.4695 | ambiguous | 0.171 | Stabilizing | 0.996 | D | 0.57 | 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.