Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23096 | 69511;69512;69513 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| N2AB | 21455 | 64588;64589;64590 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| N2A | 20528 | 61807;61808;61809 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| N2B | 14031 | 42316;42317;42318 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| Novex-1 | 14156 | 42691;42692;42693 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| Novex-2 | 14223 | 42892;42893;42894 | chr2:178577049;178577048;178577047 | chr2:179441776;179441775;179441774 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs775422985  |
-1.089 | 0.295 | N | 0.375 | 0.161 | 0.598985906569 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34747E-04 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs775422985 |
-1.089 | 0.295 | N | 0.375 | 0.161 | 0.598985906569 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs775422985 |
-1.089 | 0.295 | N | 0.375 | 0.161 | 0.598985906569 | gnomAD-4.0.0 | 1.61145E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.80202E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | None | N | 0.205 | 0.17 | 0.0401082797425 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0688 | likely_benign | 0.0665 | benign | -0.625 | Destabilizing | None | N | 0.106 | neutral | N | 0.410369902 | None | None | N |
| S/C | 0.0957 | likely_benign | 0.0979 | benign | -0.485 | Destabilizing | 0.612 | D | 0.313 | neutral | D | 0.523946124 | None | None | N |
| S/D | 0.2596 | likely_benign | 0.2473 | benign | -0.141 | Destabilizing | None | N | 0.099 | neutral | None | None | None | None | N |
| S/E | 0.3855 | ambiguous | 0.354 | ambiguous | -0.092 | Destabilizing | 0.016 | N | 0.221 | neutral | None | None | None | None | N |
| S/F | 0.1583 | likely_benign | 0.1476 | benign | -0.898 | Destabilizing | 0.295 | N | 0.375 | neutral | N | 0.505187005 | None | None | N |
| S/G | 0.0713 | likely_benign | 0.072 | benign | -0.869 | Destabilizing | 0.016 | N | 0.215 | neutral | None | None | None | None | N |
| S/H | 0.249 | likely_benign | 0.2325 | benign | -1.032 | Destabilizing | 0.356 | N | 0.343 | neutral | None | None | None | None | N |
| S/I | 0.1305 | likely_benign | 0.1285 | benign | -0.07 | Destabilizing | 0.12 | N | 0.417 | neutral | None | None | None | None | N |
| S/K | 0.5717 | likely_pathogenic | 0.5057 | ambiguous | -0.39 | Destabilizing | 0.072 | N | 0.188 | neutral | None | None | None | None | N |
| S/L | 0.0945 | likely_benign | 0.091 | benign | -0.07 | Destabilizing | 0.038 | N | 0.343 | neutral | None | None | None | None | N |
| S/M | 0.1385 | likely_benign | 0.1374 | benign | -0.231 | Destabilizing | 0.356 | N | 0.331 | neutral | None | None | None | None | N |
| S/N | 0.0957 | likely_benign | 0.0904 | benign | -0.539 | Destabilizing | 0.001 | N | 0.141 | neutral | None | None | None | None | N |
| S/P | 0.4471 | ambiguous | 0.3806 | ambiguous | -0.223 | Destabilizing | None | N | 0.205 | neutral | N | 0.490409553 | None | None | N |
| S/Q | 0.3703 | ambiguous | 0.3439 | ambiguous | -0.52 | Destabilizing | 0.356 | N | 0.332 | neutral | None | None | None | None | N |
| S/R | 0.5481 | ambiguous | 0.4785 | ambiguous | -0.313 | Destabilizing | 0.072 | N | 0.408 | neutral | None | None | None | None | N |
| S/T | 0.066 | likely_benign | 0.0642 | benign | -0.511 | Destabilizing | None | N | 0.124 | neutral | N | 0.410367115 | None | None | N |
| S/V | 0.1199 | likely_benign | 0.1165 | benign | -0.223 | Destabilizing | 0.038 | N | 0.347 | neutral | None | None | None | None | N |
| S/W | 0.315 | likely_benign | 0.2949 | benign | -1.012 | Destabilizing | 0.864 | D | 0.457 | neutral | None | None | None | None | N |
| S/Y | 0.1576 | likely_benign | 0.1433 | benign | -0.653 | Destabilizing | 0.295 | N | 0.377 | neutral | N | 0.512729052 | 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.