Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22131 | 66616;66617;66618 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| N2AB | 20490 | 61693;61694;61695 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| N2A | 19563 | 58912;58913;58914 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| N2B | 13066 | 39421;39422;39423 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| Novex-1 | 13191 | 39796;39797;39798 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| Novex-2 | 13258 | 39997;39998;39999 | chr2:178581978;178581977;178581976 | chr2:179446705;179446704;179446703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs140842479  |
-1.604 | 0.012 | N | 0.435 | 0.154 | None | gnomAD-2.1.1 | 1.5006E-04 | None | None | None | None | N | None | 1.44688E-03 | 1.69847E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| T/A | rs140842479 |
-1.604 | 0.012 | N | 0.435 | 0.154 | None | gnomAD-3.1.2 | 4.60199E-04 | None | None | None | None | N | None | 1.49549E-03 | 3.27697E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/A | rs140842479 |
-1.604 | 0.012 | N | 0.435 | 0.154 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | N | None | 5.3E-03 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs140842479 |
-1.604 | 0.012 | N | 0.435 | 0.154 | None | gnomAD-4.0.0 | 8.05776E-05 | None | None | None | None | N | None | 1.26653E-03 | 1.83401E-04 | None | 0 | 0 | None | 0 | 1.65344E-04 | 1.18693E-05 | 0 | 1.44106E-04 |
| T/I | rs1553626919 |
None | None | N | 0.441 | 0.119 | 0.188950314367 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02682E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1083 | likely_benign | 0.1179 | benign | -0.986 | Destabilizing | 0.012 | N | 0.435 | neutral | N | 0.38514617 | None | None | N |
| T/C | 0.2762 | likely_benign | 0.3051 | benign | -0.866 | Destabilizing | 0.628 | D | 0.664 | neutral | None | None | None | None | N |
| T/D | 0.8455 | likely_pathogenic | 0.8335 | pathogenic | -1.679 | Destabilizing | 0.072 | N | 0.689 | prob.neutral | None | None | None | None | N |
| T/E | 0.6505 | likely_pathogenic | 0.654 | pathogenic | -1.528 | Destabilizing | 0.038 | N | 0.679 | prob.neutral | None | None | None | None | N |
| T/F | 0.2606 | likely_benign | 0.2684 | benign | -0.624 | Destabilizing | 0.214 | N | 0.68 | prob.neutral | None | None | None | None | N |
| T/G | 0.4435 | ambiguous | 0.4626 | ambiguous | -1.37 | Destabilizing | 0.072 | N | 0.665 | neutral | None | None | None | None | N |
| T/H | 0.4572 | ambiguous | 0.4257 | ambiguous | -1.602 | Destabilizing | 0.356 | N | 0.643 | neutral | None | None | None | None | N |
| T/I | 0.1098 | likely_benign | 0.1311 | benign | None | Stabilizing | None | N | 0.441 | neutral | N | 0.368928711 | None | None | N |
| T/K | 0.5964 | likely_pathogenic | 0.5618 | ambiguous | -0.805 | Destabilizing | None | N | 0.44 | neutral | N | 0.375526609 | None | None | N |
| T/L | 0.0924 | likely_benign | 0.0933 | benign | None | Stabilizing | 0.002 | N | 0.597 | neutral | None | None | None | None | N |
| T/M | 0.0687 | likely_benign | 0.0753 | benign | 0.032 | Stabilizing | 0.214 | N | 0.681 | prob.neutral | None | None | None | None | N |
| T/N | 0.2624 | likely_benign | 0.2745 | benign | -1.347 | Destabilizing | 0.072 | N | 0.636 | neutral | None | None | None | None | N |
| T/P | 0.9289 | likely_pathogenic | 0.9176 | pathogenic | -0.297 | Destabilizing | 0.295 | N | 0.709 | prob.delet. | N | 0.510304823 | None | None | N |
| T/Q | 0.4178 | ambiguous | 0.4174 | ambiguous | -1.229 | Destabilizing | 0.214 | N | 0.715 | prob.delet. | None | None | None | None | N |
| T/R | 0.5087 | ambiguous | 0.4518 | ambiguous | -0.893 | Destabilizing | 0.029 | N | 0.693 | prob.neutral | N | 0.394208371 | None | None | N |
| T/S | 0.1476 | likely_benign | 0.1531 | benign | -1.472 | Destabilizing | 0.024 | N | 0.519 | neutral | N | 0.409775256 | None | None | N |
| T/V | 0.1059 | likely_benign | 0.1258 | benign | -0.297 | Destabilizing | 0.002 | N | 0.425 | neutral | None | None | None | None | N |
| T/W | 0.6734 | likely_pathogenic | 0.6596 | pathogenic | -0.795 | Destabilizing | 0.864 | D | 0.664 | neutral | None | None | None | None | N |
| T/Y | 0.3271 | likely_benign | 0.3282 | benign | -0.44 | Destabilizing | 0.356 | N | 0.667 | 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.