Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25643 | 77152;77153;77154 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| N2AB | 24002 | 72229;72230;72231 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| N2A | 23075 | 69448;69449;69450 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| N2B | 16578 | 49957;49958;49959 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| Novex-1 | 16703 | 50332;50333;50334 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| Novex-2 | 16770 | 50533;50534;50535 | chr2:178569205;178569204;178569203 | chr2:179433932;179433931;179433930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.78 | N | 0.465 | 0.208 | 0.226586394389 | gnomAD-4.0.0 | 1.60351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.103 | N | 0.321 | 0.13 | 0.144782658237 | gnomAD-4.0.0 | 1.60365E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45488E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6766 | likely_pathogenic | 0.7167 | pathogenic | -0.639 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| A/D | 0.7834 | likely_pathogenic | 0.7946 | pathogenic | -0.645 | Destabilizing | 0.896 | D | 0.596 | neutral | N | 0.465759697 | None | None | N |
| A/E | 0.6898 | likely_pathogenic | 0.6938 | pathogenic | -0.653 | Destabilizing | 0.919 | D | 0.519 | neutral | None | None | None | None | N |
| A/F | 0.6399 | likely_pathogenic | 0.6837 | pathogenic | -0.793 | Destabilizing | 0.988 | D | 0.651 | neutral | None | None | None | None | N |
| A/G | 0.2496 | likely_benign | 0.2662 | benign | -1.053 | Destabilizing | 0.78 | D | 0.465 | neutral | N | 0.467280634 | None | None | N |
| A/H | 0.8398 | likely_pathogenic | 0.859 | pathogenic | -1.12 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| A/I | 0.3894 | ambiguous | 0.4383 | ambiguous | -0.171 | Destabilizing | 0.976 | D | 0.52 | neutral | None | None | None | None | N |
| A/K | 0.8842 | likely_pathogenic | 0.897 | pathogenic | -0.873 | Destabilizing | 0.919 | D | 0.525 | neutral | None | None | None | None | N |
| A/L | 0.3555 | ambiguous | 0.3839 | ambiguous | -0.171 | Destabilizing | 0.851 | D | 0.495 | neutral | None | None | None | None | N |
| A/M | 0.3145 | likely_benign | 0.3522 | ambiguous | -0.166 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| A/N | 0.507 | ambiguous | 0.5357 | ambiguous | -0.61 | Destabilizing | 0.976 | D | 0.595 | neutral | None | None | None | None | N |
| A/P | 0.7716 | likely_pathogenic | 0.7955 | pathogenic | -0.331 | Destabilizing | 0.984 | D | 0.53 | neutral | N | 0.521905896 | None | None | N |
| A/Q | 0.6989 | likely_pathogenic | 0.7159 | pathogenic | -0.72 | Destabilizing | 0.988 | D | 0.55 | neutral | None | None | None | None | N |
| A/R | 0.8749 | likely_pathogenic | 0.8834 | pathogenic | -0.604 | Destabilizing | 0.988 | D | 0.549 | neutral | None | None | None | None | N |
| A/S | 0.1119 | likely_benign | 0.1195 | benign | -1.044 | Destabilizing | 0.123 | N | 0.225 | neutral | N | 0.449755009 | None | None | N |
| A/T | 0.1106 | likely_benign | 0.1303 | benign | -0.949 | Destabilizing | 0.103 | N | 0.321 | neutral | N | 0.459913288 | None | None | N |
| A/V | 0.1914 | likely_benign | 0.2219 | benign | -0.331 | Destabilizing | 0.811 | D | 0.47 | neutral | N | 0.502663987 | None | None | N |
| A/W | 0.9422 | likely_pathogenic | 0.9523 | pathogenic | -1.153 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7765 | likely_pathogenic | 0.8072 | pathogenic | -0.714 | Destabilizing | 0.996 | D | 0.656 | 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.