Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9173 | 27742;27743;27744 | chr2:178712405;178712404;178712403 | chr2:179577132;179577131;179577130 |
| N2AB | 8856 | 26791;26792;26793 | chr2:178712405;178712404;178712403 | chr2:179577132;179577131;179577130 |
| N2A | 7929 | 24010;24011;24012 | chr2:178712405;178712404;178712403 | chr2:179577132;179577131;179577130 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1312859517  |
-0.859 | 0.454 | N | 0.334 | 0.08 | 0.158396225186 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/G | rs1312859517 |
-0.859 | 0.454 | N | 0.334 | 0.08 | 0.158396225186 | gnomAD-4.0.0 | 1.84731E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33855E-05 | 0 | 1.6564E-05 |
| S/N | None | None | 0.002 | N | 0.107 | 0.076 | 0.101711395817 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0703 | likely_benign | 0.0712 | benign | -0.548 | Destabilizing | 0.688 | D | 0.389 | neutral | None | None | None | None | N |
| S/C | 0.1082 | likely_benign | 0.1115 | benign | -0.431 | Destabilizing | 0.997 | D | 0.385 | neutral | N | 0.461758955 | None | None | N |
| S/D | 0.1718 | likely_benign | 0.1709 | benign | -0.371 | Destabilizing | 0.728 | D | 0.278 | neutral | None | None | None | None | N |
| S/E | 0.2727 | likely_benign | 0.2879 | benign | -0.42 | Destabilizing | 0.842 | D | 0.279 | neutral | None | None | None | None | N |
| S/F | 0.11 | likely_benign | 0.1085 | benign | -0.95 | Destabilizing | 0.974 | D | 0.422 | neutral | None | None | None | None | N |
| S/G | 0.0748 | likely_benign | 0.0756 | benign | -0.735 | Destabilizing | 0.454 | N | 0.334 | neutral | N | 0.490937123 | None | None | N |
| S/H | 0.1951 | likely_benign | 0.1993 | benign | -1.341 | Destabilizing | 0.037 | N | 0.231 | neutral | None | None | None | None | N |
| S/I | 0.106 | likely_benign | 0.1056 | benign | -0.174 | Destabilizing | 0.966 | D | 0.424 | neutral | N | 0.473279844 | None | None | N |
| S/K | 0.3547 | ambiguous | 0.3769 | ambiguous | -0.704 | Destabilizing | 0.842 | D | 0.28 | neutral | None | None | None | None | N |
| S/L | 0.0839 | likely_benign | 0.0822 | benign | -0.174 | Destabilizing | 0.915 | D | 0.391 | neutral | None | None | None | None | N |
| S/M | 0.1521 | likely_benign | 0.1525 | benign | 0.202 | Stabilizing | 0.998 | D | 0.355 | neutral | None | None | None | None | N |
| S/N | 0.0748 | likely_benign | 0.0753 | benign | -0.585 | Destabilizing | 0.002 | N | 0.107 | neutral | N | 0.403160636 | None | None | N |
| S/P | 0.49 | ambiguous | 0.4406 | ambiguous | -0.267 | Destabilizing | 0.991 | D | 0.367 | neutral | None | None | None | None | N |
| S/Q | 0.2858 | likely_benign | 0.2997 | benign | -0.84 | Destabilizing | 0.974 | D | 0.33 | neutral | None | None | None | None | N |
| S/R | 0.2768 | likely_benign | 0.2945 | benign | -0.521 | Destabilizing | 0.801 | D | 0.334 | neutral | N | 0.459864855 | None | None | N |
| S/T | 0.071 | likely_benign | 0.0714 | benign | -0.605 | Destabilizing | 0.625 | D | 0.316 | neutral | N | 0.461905082 | None | None | N |
| S/V | 0.1144 | likely_benign | 0.1136 | benign | -0.267 | Destabilizing | 0.974 | D | 0.391 | neutral | None | None | None | None | N |
| S/W | 0.2761 | likely_benign | 0.2679 | benign | -0.932 | Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| S/Y | 0.1112 | likely_benign | 0.1102 | benign | -0.664 | Destabilizing | 0.949 | D | 0.425 | 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.