Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15771 | 47536;47537;47538 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| N2AB | 14130 | 42613;42614;42615 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| N2A | 13203 | 39832;39833;39834 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| N2B | 6706 | 20341;20342;20343 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| Novex-1 | 6831 | 20716;20717;20718 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| Novex-2 | 6898 | 20917;20918;20919 | chr2:178618040;178618039;178618038 | chr2:179482767;179482766;179482765 |
| 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/D | rs748512074  |
-0.372 | 0.98 | N | 0.419 | 0.382 | 0.218845423259 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.47E-05 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs748512074 |
-0.372 | 0.98 | N | 0.419 | 0.382 | 0.218845423259 | gnomAD-4.0.0 | 4.78254E-06 | None | None | None | None | N | None | 5.67924E-05 | 4.58358E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6032 | likely_pathogenic | 0.5882 | pathogenic | -0.929 | Destabilizing | 0.971 | D | 0.402 | neutral | None | None | None | None | N |
| N/C | 0.5105 | ambiguous | 0.5104 | ambiguous | -0.015 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| N/D | 0.1849 | likely_benign | 0.1741 | benign | -0.64 | Destabilizing | 0.98 | D | 0.419 | neutral | N | 0.469419903 | None | None | N |
| N/E | 0.7344 | likely_pathogenic | 0.7083 | pathogenic | -0.548 | Destabilizing | 0.985 | D | 0.401 | neutral | None | None | None | None | N |
| N/F | 0.8319 | likely_pathogenic | 0.8102 | pathogenic | -0.684 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| N/G | 0.3969 | ambiguous | 0.3806 | ambiguous | -1.27 | Destabilizing | 0.985 | D | 0.393 | neutral | None | None | None | None | N |
| N/H | 0.2355 | likely_benign | 0.2134 | benign | -1.03 | Destabilizing | 0.999 | D | 0.442 | neutral | N | 0.484469575 | None | None | N |
| N/I | 0.7463 | likely_pathogenic | 0.7523 | pathogenic | -0.062 | Destabilizing | 0.994 | D | 0.643 | neutral | D | 0.523364548 | None | None | N |
| N/K | 0.6699 | likely_pathogenic | 0.6588 | pathogenic | -0.352 | Destabilizing | 0.98 | D | 0.402 | neutral | N | 0.484413516 | None | None | N |
| N/L | 0.5783 | likely_pathogenic | 0.5695 | pathogenic | -0.062 | Destabilizing | 0.996 | D | 0.539 | neutral | None | None | None | None | N |
| N/M | 0.6927 | likely_pathogenic | 0.6743 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| N/P | 0.9293 | likely_pathogenic | 0.9276 | pathogenic | -0.321 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| N/Q | 0.6583 | likely_pathogenic | 0.6341 | pathogenic | -0.939 | Destabilizing | 0.998 | D | 0.433 | neutral | None | None | None | None | N |
| N/R | 0.662 | likely_pathogenic | 0.6433 | pathogenic | -0.377 | Destabilizing | 0.998 | D | 0.427 | neutral | None | None | None | None | N |
| N/S | 0.1015 | likely_benign | 0.1023 | benign | -0.949 | Destabilizing | 0.659 | D | 0.202 | neutral | N | 0.446429415 | None | None | N |
| N/T | 0.1984 | likely_benign | 0.1831 | benign | -0.666 | Destabilizing | 0.4 | N | 0.213 | neutral | N | 0.430666269 | None | None | N |
| N/V | 0.7011 | likely_pathogenic | 0.6944 | pathogenic | -0.321 | Destabilizing | 0.996 | D | 0.546 | neutral | None | None | None | None | N |
| N/W | 0.9397 | likely_pathogenic | 0.9233 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| N/Y | 0.4937 | ambiguous | 0.4578 | ambiguous | -0.251 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.483760437 | 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.