Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29246 | 87961;87962;87963 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| N2AB | 27605 | 83038;83039;83040 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| N2A | 26678 | 80257;80258;80259 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| N2B | 20181 | 60766;60767;60768 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| Novex-1 | 20306 | 61141;61142;61143 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| Novex-2 | 20373 | 61342;61343;61344 | chr2:178557526;178557525;178557524 | chr2:179422253;179422252;179422251 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.939 | N | 0.521 | 0.322 | 0.605413031733 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| V/F | None | None | 0.982 | N | 0.793 | 0.425 | 0.762425462539 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | I | None | 5.97407E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.046 | N | 0.209 | 0.083 | 0.484913652648 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79885E-06 | 0 | 0 |
| V/L | rs778562367  |
-0.254 | 0.76 | N | 0.387 | 0.194 | 0.436025050644 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11757E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs778562367 |
-0.254 | 0.76 | N | 0.387 | 0.194 | 0.436025050644 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.04388E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5311 | ambiguous | 0.511 | ambiguous | -1.448 | Destabilizing | 0.939 | D | 0.521 | neutral | N | 0.513190412 | None | None | I |
| V/C | 0.8251 | likely_pathogenic | 0.8148 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | I |
| V/D | 0.9431 | likely_pathogenic | 0.9455 | pathogenic | -1.187 | Destabilizing | 0.997 | D | 0.809 | deleterious | N | 0.508522936 | None | None | I |
| V/E | 0.8822 | likely_pathogenic | 0.8662 | pathogenic | -1.117 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | I |
| V/F | 0.5092 | ambiguous | 0.5337 | ambiguous | -0.96 | Destabilizing | 0.982 | D | 0.793 | deleterious | N | 0.48362737 | None | None | I |
| V/G | 0.634 | likely_pathogenic | 0.6664 | pathogenic | -1.837 | Destabilizing | 0.997 | D | 0.785 | deleterious | N | 0.515902769 | None | None | I |
| V/H | 0.9445 | likely_pathogenic | 0.9446 | pathogenic | -1.361 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | I |
| V/I | 0.0865 | likely_benign | 0.0796 | benign | -0.456 | Destabilizing | 0.046 | N | 0.209 | neutral | N | 0.466170043 | None | None | I |
| V/K | 0.8962 | likely_pathogenic | 0.8806 | pathogenic | -1.21 | Destabilizing | 0.993 | D | 0.792 | deleterious | None | None | None | None | I |
| V/L | 0.4503 | ambiguous | 0.3958 | ambiguous | -0.456 | Destabilizing | 0.76 | D | 0.387 | neutral | N | 0.470727356 | None | None | I |
| V/M | 0.3926 | ambiguous | 0.3518 | ambiguous | -0.441 | Destabilizing | 0.986 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/N | 0.843 | likely_pathogenic | 0.8279 | pathogenic | -1.161 | Destabilizing | 0.998 | D | 0.821 | deleterious | None | None | None | None | I |
| V/P | 0.8197 | likely_pathogenic | 0.8583 | pathogenic | -0.752 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | I |
| V/Q | 0.8617 | likely_pathogenic | 0.8386 | pathogenic | -1.2 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | I |
| V/R | 0.8704 | likely_pathogenic | 0.8569 | pathogenic | -0.83 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | I |
| V/S | 0.7251 | likely_pathogenic | 0.7131 | pathogenic | -1.757 | Destabilizing | 0.993 | D | 0.77 | deleterious | None | None | None | None | I |
| V/T | 0.6044 | likely_pathogenic | 0.544 | ambiguous | -1.553 | Destabilizing | 0.953 | D | 0.628 | neutral | None | None | None | None | I |
| V/W | 0.9633 | likely_pathogenic | 0.9706 | pathogenic | -1.226 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | I |
| V/Y | 0.8898 | likely_pathogenic | 0.9002 | pathogenic | -0.882 | Destabilizing | 0.998 | D | 0.806 | deleterious | 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.