Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32881 | 98866;98867;98868 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| N2AB | 31240 | 93943;93944;93945 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| N2A | 30313 | 91162;91163;91164 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| N2B | 23816 | 71671;71672;71673 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| Novex-1 | 23941 | 72046;72047;72048 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| Novex-2 | 24008 | 72247;72248;72249 | chr2:178539424;178539423;178539422 | chr2:179404151;179404150;179404149 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 0.484 | N | 0.619 | 0.463 | 0.317958651998 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | rs367979582  |
-1.352 | None | N | 0.384 | 0.147 | 0.124217242631 | gnomAD-2.1.1 | 9.99E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12774E-03 | None | 1.96117E-04 | None | 0 | 0 | 0 |
| P/S | rs367979582 |
-1.352 | None | N | 0.384 | 0.147 | 0.124217242631 | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.54024E-03 | None | 0 | 0 | 0 | 8.28157E-04 | 0 |
| P/S | rs367979582 |
-1.352 | None | N | 0.384 | 0.147 | 0.124217242631 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| P/S | rs367979582 |
-1.352 | None | N | 0.384 | 0.147 | 0.124217242631 | gnomAD-4.0.0 | 4.52369E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.01712E-04 | None | 0 | 0 | 3.39061E-06 | 3.51339E-04 | 1.60067E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0717 | likely_benign | 0.0728 | benign | -1.495 | Destabilizing | None | N | 0.355 | neutral | N | 0.480570772 | None | None | N |
| P/C | 0.3673 | ambiguous | 0.3359 | benign | -1.041 | Destabilizing | 0.824 | D | 0.635 | neutral | None | None | None | None | N |
| P/D | 0.5754 | likely_pathogenic | 0.6262 | pathogenic | -1.147 | Destabilizing | 0.081 | N | 0.502 | neutral | None | None | None | None | N |
| P/E | 0.4735 | ambiguous | 0.5234 | ambiguous | -1.17 | Destabilizing | 0.081 | N | 0.512 | neutral | None | None | None | None | N |
| P/F | 0.4301 | ambiguous | 0.4518 | ambiguous | -1.221 | Destabilizing | 0.555 | D | 0.621 | neutral | None | None | None | None | N |
| P/G | 0.2623 | likely_benign | 0.2779 | benign | -1.775 | Destabilizing | 0.035 | N | 0.489 | neutral | None | None | None | None | N |
| P/H | 0.2748 | likely_benign | 0.3038 | benign | -1.192 | Destabilizing | 0.484 | N | 0.619 | neutral | N | 0.518073183 | None | None | N |
| P/I | 0.3699 | ambiguous | 0.3725 | ambiguous | -0.835 | Destabilizing | 0.38 | N | 0.63 | neutral | None | None | None | None | N |
| P/K | 0.6146 | likely_pathogenic | 0.6808 | pathogenic | -1.138 | Destabilizing | 0.081 | N | 0.503 | neutral | None | None | None | None | N |
| P/L | 0.2156 | likely_benign | 0.2378 | benign | -0.835 | Destabilizing | 0.062 | N | 0.557 | neutral | N | 0.504435472 | None | None | N |
| P/M | 0.3573 | ambiguous | 0.3712 | ambiguous | -0.656 | Destabilizing | 0.555 | D | 0.619 | neutral | None | None | None | None | N |
| P/N | 0.349 | ambiguous | 0.3757 | ambiguous | -0.915 | Destabilizing | 0.081 | N | 0.534 | neutral | None | None | None | None | N |
| P/Q | 0.278 | likely_benign | 0.3109 | benign | -1.138 | Destabilizing | 0.38 | N | 0.593 | neutral | None | None | None | None | N |
| P/R | 0.4647 | ambiguous | 0.523 | ambiguous | -0.568 | Destabilizing | 0.317 | N | 0.612 | neutral | N | 0.499208459 | None | None | N |
| P/S | 0.0983 | likely_benign | 0.102 | benign | -1.456 | Destabilizing | None | N | 0.384 | neutral | N | 0.461999218 | None | None | N |
| P/T | 0.1146 | likely_benign | 0.1226 | benign | -1.375 | Destabilizing | 0.027 | N | 0.475 | neutral | N | 0.517312714 | None | None | N |
| P/V | 0.2482 | likely_benign | 0.2489 | benign | -1.02 | Destabilizing | 0.081 | N | 0.545 | neutral | None | None | None | None | N |
| P/W | 0.5978 | likely_pathogenic | 0.6251 | pathogenic | -1.322 | Destabilizing | 0.935 | D | 0.663 | neutral | None | None | None | None | N |
| P/Y | 0.359 | ambiguous | 0.3803 | ambiguous | -1.058 | Destabilizing | 0.555 | D | 0.629 | 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.