Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18927 | 57004;57005;57006 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| N2AB | 17286 | 52081;52082;52083 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| N2A | 16359 | 49300;49301;49302 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| N2B | 9862 | 29809;29810;29811 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| Novex-1 | 9987 | 30184;30185;30186 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| Novex-2 | 10054 | 30385;30386;30387 | chr2:178598931;178598930;178598929 | chr2:179463658;179463657;179463656 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs937956129  |
0.014 | 0.726 | N | 0.516 | 0.273 | 0.200317383148 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| T/A | rs937956129 |
0.014 | 0.726 | N | 0.516 | 0.273 | 0.200317383148 | gnomAD-4.0.0 | 1.36903E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99666E-07 | 0 | 1.65755E-05 |
| T/N | rs1432586088 |
0.175 | 0.957 | N | 0.559 | 0.313 | 0.28798054836 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs1432586088 |
0.175 | 0.957 | N | 0.559 | 0.313 | 0.28798054836 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43353E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0903 | likely_benign | 0.1001 | benign | -0.255 | Destabilizing | 0.726 | D | 0.516 | neutral | N | 0.468322127 | None | None | N |
| T/C | 0.5553 | ambiguous | 0.622 | pathogenic | -0.128 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| T/D | 0.5783 | likely_pathogenic | 0.6218 | pathogenic | 0.046 | Stabilizing | 0.983 | D | 0.57 | neutral | None | None | None | None | N |
| T/E | 0.5097 | ambiguous | 0.5468 | ambiguous | -0.055 | Destabilizing | 0.983 | D | 0.557 | neutral | None | None | None | None | N |
| T/F | 0.4825 | ambiguous | 0.5787 | pathogenic | -0.924 | Destabilizing | 0.992 | D | 0.644 | neutral | None | None | None | None | N |
| T/G | 0.2279 | likely_benign | 0.2356 | benign | -0.314 | Destabilizing | 0.895 | D | 0.527 | neutral | None | None | None | None | N |
| T/H | 0.394 | ambiguous | 0.4302 | ambiguous | -0.61 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| T/I | 0.4024 | ambiguous | 0.4664 | ambiguous | -0.22 | Destabilizing | 0.989 | D | 0.591 | neutral | N | 0.505648364 | None | None | N |
| T/K | 0.3108 | likely_benign | 0.3156 | benign | -0.177 | Destabilizing | 0.968 | D | 0.567 | neutral | None | None | None | None | N |
| T/L | 0.1899 | likely_benign | 0.2133 | benign | -0.22 | Destabilizing | 0.944 | D | 0.554 | neutral | None | None | None | None | N |
| T/M | 0.1626 | likely_benign | 0.1803 | benign | 0.028 | Stabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| T/N | 0.1801 | likely_benign | 0.2029 | benign | 0.082 | Stabilizing | 0.957 | D | 0.559 | neutral | N | 0.446981276 | None | None | N |
| T/P | 0.4387 | ambiguous | 0.5188 | ambiguous | -0.208 | Destabilizing | 0.989 | D | 0.587 | neutral | N | 0.47180515 | None | None | N |
| T/Q | 0.3014 | likely_benign | 0.302 | benign | -0.187 | Destabilizing | 0.983 | D | 0.59 | neutral | None | None | None | None | N |
| T/R | 0.273 | likely_benign | 0.278 | benign | 0.091 | Stabilizing | 0.983 | D | 0.576 | neutral | None | None | None | None | N |
| T/S | 0.1159 | likely_benign | 0.1286 | benign | -0.092 | Destabilizing | 0.146 | N | 0.459 | neutral | N | 0.454987471 | None | None | N |
| T/V | 0.2457 | likely_benign | 0.2807 | benign | -0.208 | Destabilizing | 0.944 | D | 0.537 | neutral | None | None | None | None | N |
| T/W | 0.8197 | likely_pathogenic | 0.8552 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| T/Y | 0.5202 | ambiguous | 0.5555 | ambiguous | -0.659 | Destabilizing | 0.997 | D | 0.639 | 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.