Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16116 | 48571;48572;48573 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| N2AB | 14475 | 43648;43649;43650 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| N2A | 13548 | 40867;40868;40869 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| N2B | 7051 | 21376;21377;21378 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| Novex-1 | 7176 | 21751;21752;21753 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| Novex-2 | 7243 | 21952;21953;21954 | chr2:178615755;178615754;178615753 | chr2:179480482;179480481;179480480 |
| 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 | 0.999 | D | 0.661 | 0.481 | 0.684715264095 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
| V/D | rs747142700  |
-3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs747142700 |
-3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | rs747142700 |
-3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | gnomAD-4.0.0 | 1.97431E-05 | None | None | None | None | N | None | 7.24253E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs367769671 |
0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/I | rs367769671 |
0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs367769671 |
0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-4.0.0 | 5.21137E-05 | None | None | None | None | N | None | 1.33718E-05 | 0 | None | 3.38524E-05 | 0 | None | 0 | 0 | 6.87171E-05 | 0 | 1.60354E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6761 | likely_pathogenic | 0.7612 | pathogenic | -1.956 | Destabilizing | 0.999 | D | 0.661 | neutral | D | 0.585038827 | None | None | N |
| V/C | 0.9044 | likely_pathogenic | 0.9311 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/D | 0.9884 | likely_pathogenic | 0.9913 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.597193065 | None | None | N |
| V/E | 0.9669 | likely_pathogenic | 0.9726 | pathogenic | -2.573 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/F | 0.5741 | likely_pathogenic | 0.6551 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.62938206 | None | None | N |
| V/G | 0.9117 | likely_pathogenic | 0.9341 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.768539624 | None | None | N |
| V/H | 0.9847 | likely_pathogenic | 0.9894 | pathogenic | -2.511 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.0809 | likely_benign | 0.0886 | benign | -0.246 | Destabilizing | 0.997 | D | 0.55 | neutral | N | 0.485864165 | None | None | N |
| V/K | 0.9781 | likely_pathogenic | 0.9819 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/L | 0.351 | ambiguous | 0.4428 | ambiguous | -0.246 | Destabilizing | 0.997 | D | 0.665 | neutral | N | 0.514709339 | None | None | N |
| V/M | 0.3889 | ambiguous | 0.4857 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/N | 0.969 | likely_pathogenic | 0.9771 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/P | 0.9739 | likely_pathogenic | 0.9817 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/Q | 0.9646 | likely_pathogenic | 0.9731 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/R | 0.9676 | likely_pathogenic | 0.9729 | pathogenic | -1.906 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/S | 0.8921 | likely_pathogenic | 0.9225 | pathogenic | -2.943 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/T | 0.8261 | likely_pathogenic | 0.8639 | pathogenic | -2.471 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.9888 | likely_pathogenic | 0.993 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Y | 0.9478 | likely_pathogenic | 0.9638 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.807 | deleterious | 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.