Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32184 | 96775;96776;96777 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| N2AB | 30543 | 91852;91853;91854 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| N2A | 29616 | 89071;89072;89073 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| N2B | 23119 | 69580;69581;69582 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| Novex-1 | 23244 | 69955;69956;69957 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| Novex-2 | 23311 | 70156;70157;70158 | chr2:178543423;178543422;178543421 | chr2:179408150;179408149;179408148 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs952755219  |
None | 0.994 | N | 0.439 | 0.381 | 0.689408752455 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs952755219 |
None | 0.994 | N | 0.439 | 0.381 | 0.689408752455 | gnomAD-4.0.0 | 6.40505E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19645E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4228 | ambiguous | 0.3955 | ambiguous | -0.796 | Destabilizing | 0.992 | D | 0.49 | neutral | None | None | None | None | I |
| I/C | 0.7362 | likely_pathogenic | 0.6968 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.471 | neutral | None | None | None | None | I |
| I/D | 0.7948 | likely_pathogenic | 0.7645 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | I |
| I/E | 0.6314 | likely_pathogenic | 0.6211 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | I |
| I/F | 0.3434 | ambiguous | 0.2902 | benign | -0.685 | Destabilizing | 0.997 | D | 0.376 | neutral | N | 0.515478569 | None | None | I |
| I/G | 0.7673 | likely_pathogenic | 0.7337 | pathogenic | -0.984 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | I |
| I/H | 0.6879 | likely_pathogenic | 0.611 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | I |
| I/K | 0.504 | ambiguous | 0.4844 | ambiguous | -0.407 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | I |
| I/L | 0.1726 | likely_benign | 0.1449 | benign | -0.408 | Destabilizing | 0.889 | D | 0.319 | neutral | N | 0.439615373 | None | None | I |
| I/M | 0.1516 | likely_benign | 0.1358 | benign | -0.538 | Destabilizing | 0.889 | D | 0.419 | neutral | N | 0.472381153 | None | None | I |
| I/N | 0.4193 | ambiguous | 0.3424 | ambiguous | -0.287 | Destabilizing | 0.999 | D | 0.617 | neutral | N | 0.487694535 | None | None | I |
| I/P | 0.7378 | likely_pathogenic | 0.6957 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
| I/Q | 0.5381 | ambiguous | 0.4916 | ambiguous | -0.464 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | I |
| I/R | 0.4323 | ambiguous | 0.3891 | ambiguous | 0.144 | Stabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | I |
| I/S | 0.4072 | ambiguous | 0.3447 | ambiguous | -0.787 | Destabilizing | 0.998 | D | 0.465 | neutral | N | 0.43984466 | None | None | I |
| I/T | 0.3736 | ambiguous | 0.3339 | benign | -0.731 | Destabilizing | 0.994 | D | 0.439 | neutral | N | 0.481075207 | None | None | I |
| I/V | 0.1028 | likely_benign | 0.0938 | benign | -0.505 | Destabilizing | 0.889 | D | 0.367 | neutral | N | 0.467839338 | None | None | I |
| I/W | 0.9018 | likely_pathogenic | 0.8891 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| I/Y | 0.703 | likely_pathogenic | 0.6448 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.442 | neutral | None | None | None | None | I |
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.