Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29347 | 88264;88265;88266 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| N2AB | 27706 | 83341;83342;83343 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| N2A | 26779 | 80560;80561;80562 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| N2B | 20282 | 61069;61070;61071 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| Novex-1 | 20407 | 61444;61445;61446 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| Novex-2 | 20474 | 61645;61646;61647 | chr2:178557115;178557114;178557113 | chr2:179421842;179421841;179421840 |
| 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 | rs1200964659  |
-1.344 | 0.989 | N | 0.531 | 0.401 | 0.606697734199 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.43501E-04 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1200964659 |
-1.344 | 0.989 | N | 0.531 | 0.401 | 0.606697734199 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1200964659 |
-1.344 | 0.989 | N | 0.531 | 0.401 | 0.606697734199 | gnomAD-4.0.0 | 2.47899E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23324E-05 | None | 0 | 0 | 2.54284E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4949 | ambiguous | 0.3393 | benign | -1.793 | Destabilizing | 0.992 | D | 0.534 | neutral | None | None | None | None | N |
| I/C | 0.7008 | likely_pathogenic | 0.5993 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.588 | neutral | None | None | None | None | N |
| I/D | 0.8907 | likely_pathogenic | 0.7934 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| I/E | 0.8196 | likely_pathogenic | 0.6923 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| I/F | 0.2733 | likely_benign | 0.1887 | benign | -1.571 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.487946238 | None | None | N |
| I/G | 0.8196 | likely_pathogenic | 0.6658 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| I/H | 0.7006 | likely_pathogenic | 0.5651 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| I/K | 0.5577 | ambiguous | 0.4168 | ambiguous | -1.188 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| I/L | 0.2018 | likely_benign | 0.1527 | benign | -1.021 | Destabilizing | 0.889 | D | 0.299 | neutral | N | 0.512902411 | None | None | N |
| I/M | 0.163 | likely_benign | 0.1261 | benign | -1.136 | Destabilizing | 0.998 | D | 0.537 | neutral | N | 0.500846253 | None | None | N |
| I/N | 0.4734 | ambiguous | 0.324 | benign | -1.161 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.520658801 | None | None | N |
| I/P | 0.9586 | likely_pathogenic | 0.9241 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/Q | 0.6646 | likely_pathogenic | 0.5287 | ambiguous | -1.354 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| I/R | 0.4556 | ambiguous | 0.3279 | benign | -0.713 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| I/S | 0.4288 | ambiguous | 0.2918 | benign | -1.845 | Destabilizing | 0.998 | D | 0.623 | neutral | N | 0.480753761 | None | None | N |
| I/T | 0.2567 | likely_benign | 0.1762 | benign | -1.694 | Destabilizing | 0.989 | D | 0.531 | neutral | N | 0.508670027 | None | None | N |
| I/V | 0.0788 | likely_benign | 0.0675 | benign | -1.251 | Destabilizing | 0.333 | N | 0.191 | neutral | N | 0.418720026 | None | None | N |
| I/W | 0.9178 | likely_pathogenic | 0.8663 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| I/Y | 0.676 | likely_pathogenic | 0.5504 | ambiguous | -1.301 | Destabilizing | 1.0 | D | 0.612 | 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.