Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33657 | 101194;101195;101196 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| N2AB | 32016 | 96271;96272;96273 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| N2A | 31089 | 93490;93491;93492 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| N2B | 24592 | 73999;74000;74001 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| Novex-1 | 24717 | 74374;74375;74376 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| Novex-2 | 24784 | 74575;74576;74577 | chr2:178535646;178535645;178535644 | chr2:179400373;179400372;179400371 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs769340667  |
0.163 | 0.999 | N | 0.728 | 0.341 | 0.372087925617 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/K | rs747456613 |
0.274 | 0.731 | N | 0.233 | 0.14 | 0.134241683229 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs747456613 |
0.274 | 0.731 | N | 0.233 | 0.14 | 0.134241683229 | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99483E-07 | 0 | 0 |
| N/S | rs769340667 |
0.022 | 0.943 | N | 0.501 | 0.162 | 0.17948927462 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/S | rs769340667 |
0.022 | 0.943 | N | 0.501 | 0.162 | 0.17948927462 | gnomAD-4.0.0 | 6.15797E-06 | None | None | None | None | N | None | 0 | 6.70811E-05 | None | 0 | 0 | None | 0 | 0 | 5.3969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1936 | likely_benign | 0.1841 | benign | -0.153 | Destabilizing | 0.875 | D | 0.531 | neutral | None | None | None | None | N |
| N/C | 0.3572 | ambiguous | 0.3588 | ambiguous | 0.357 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/D | 0.1509 | likely_benign | 0.125 | benign | 0.216 | Stabilizing | 0.971 | D | 0.502 | neutral | N | 0.470985925 | None | None | N |
| N/E | 0.4017 | ambiguous | 0.3154 | benign | 0.172 | Stabilizing | 0.986 | D | 0.489 | neutral | None | None | None | None | N |
| N/F | 0.6219 | likely_pathogenic | 0.5938 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/G | 0.2059 | likely_benign | 0.2166 | benign | -0.298 | Destabilizing | 0.997 | D | 0.491 | neutral | None | None | None | None | N |
| N/H | 0.122 | likely_benign | 0.1152 | benign | -0.321 | Destabilizing | 0.999 | D | 0.497 | neutral | N | 0.514259487 | None | None | N |
| N/I | 0.3497 | ambiguous | 0.3253 | benign | 0.136 | Stabilizing | 0.999 | D | 0.728 | prob.delet. | N | 0.51495292 | None | None | N |
| N/K | 0.3338 | likely_benign | 0.2463 | benign | 0.148 | Stabilizing | 0.731 | D | 0.233 | neutral | N | 0.438009502 | None | None | N |
| N/L | 0.3039 | likely_benign | 0.2843 | benign | 0.136 | Stabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| N/M | 0.411 | ambiguous | 0.3888 | ambiguous | 0.283 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| N/P | 0.7458 | likely_pathogenic | 0.7287 | pathogenic | 0.066 | Stabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | N |
| N/Q | 0.3117 | likely_benign | 0.2654 | benign | -0.136 | Destabilizing | 0.997 | D | 0.508 | neutral | None | None | None | None | N |
| N/R | 0.3679 | ambiguous | 0.2924 | benign | 0.193 | Stabilizing | 0.993 | D | 0.496 | neutral | None | None | None | None | N |
| N/S | 0.0704 | likely_benign | 0.0725 | benign | 0.05 | Stabilizing | 0.943 | D | 0.501 | neutral | N | 0.44106845 | None | None | N |
| N/T | 0.1457 | likely_benign | 0.1335 | benign | 0.134 | Stabilizing | 0.981 | D | 0.499 | neutral | N | 0.482475142 | None | None | N |
| N/V | 0.2931 | likely_benign | 0.2774 | benign | 0.066 | Stabilizing | 0.984 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/W | 0.8316 | likely_pathogenic | 0.8171 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/Y | 0.2363 | likely_benign | 0.2168 | benign | -0.363 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.458951479 | 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.