Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| N2AB | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| N2A | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| N2B | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| Novex-1 | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| Novex-2 | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
| Novex-3 | 177 | 754;755;756 | chr2:178800449;178800448;178800447 | chr2:179665176;179665175;179665174 |
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/S | None | None | 0.13 | N | 0.305 | 0.115 | 0.128392430309 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.228(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.4831 | ambiguous | 0.4948 | ambiguous | -1.366 | Destabilizing | 0.252 | N | 0.601 | neutral | None | None | None | -0.082(TCAP) | N |
| N/C | 0.7144 | likely_pathogenic | 0.7556 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | -0.421(TCAP) | N |
| N/D | 0.4486 | ambiguous | 0.4099 | ambiguous | -1.149 | Destabilizing | 0.792 | D | 0.573 | neutral | N | 0.494406951 | None | -0.124(TCAP) | N |
| N/E | 0.6995 | likely_pathogenic | 0.6597 | pathogenic | -0.986 | Destabilizing | 0.944 | D | 0.583 | neutral | None | None | None | -0.283(TCAP) | N |
| N/F | 0.7966 | likely_pathogenic | 0.7765 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | -0.732(TCAP) | N |
| N/G | 0.7159 | likely_pathogenic | 0.7353 | pathogenic | -1.733 | Destabilizing | 0.946 | D | 0.545 | neutral | None | None | None | -0.028(TCAP) | N |
| N/H | 0.2364 | likely_benign | 0.229 | benign | -1.139 | Destabilizing | 0.997 | D | 0.623 | neutral | N | 0.457773281 | None | 0.243(TCAP) | N |
| N/I | 0.4121 | ambiguous | 0.3906 | ambiguous | -0.394 | Destabilizing | 0.984 | D | 0.715 | prob.delet. | N | 0.285673311 | None | -0.305(TCAP) | N |
| N/K | 0.7754 | likely_pathogenic | 0.7474 | pathogenic | -0.317 | Destabilizing | 0.979 | D | 0.585 | neutral | N | 0.353125925 | None | -0.561(TCAP) | N |
| N/L | 0.4318 | ambiguous | 0.4236 | ambiguous | -0.394 | Destabilizing | 0.959 | D | 0.657 | neutral | None | None | None | -0.305(TCAP) | N |
| N/M | 0.5305 | ambiguous | 0.5255 | ambiguous | -0.008 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | 0.041(TCAP) | N |
| N/P | 0.9858 | likely_pathogenic | 0.99 | pathogenic | -0.691 | Destabilizing | 0.973 | D | 0.681 | prob.neutral | None | None | None | -0.221(TCAP) | N |
| N/Q | 0.6414 | likely_pathogenic | 0.626 | pathogenic | -0.981 | Destabilizing | 0.994 | D | 0.612 | neutral | None | None | None | -0.387(TCAP) | N |
| N/R | 0.7699 | likely_pathogenic | 0.7559 | pathogenic | -0.287 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | -0.633(TCAP) | N |
| N/S | 0.1244 | likely_benign | 0.125 | benign | -1.192 | Destabilizing | 0.13 | N | 0.305 | neutral | N | 0.41084043 | None | -0.228(TCAP) | N |
| N/T | 0.1962 | likely_benign | 0.1978 | benign | -0.832 | Destabilizing | 0.032 | N | 0.287 | neutral | N | 0.304962233 | None | -0.314(TCAP) | N |
| N/V | 0.4243 | ambiguous | 0.412 | ambiguous | -0.691 | Destabilizing | 0.663 | D | 0.66 | neutral | None | None | None | -0.221(TCAP) | N |
| N/W | 0.9507 | likely_pathogenic | 0.9463 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | -0.962(TCAP) | N |
| N/Y | 0.4037 | ambiguous | 0.3799 | ambiguous | -0.385 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.449873986 | None | -0.545(TCAP) | 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.