Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31655 | 95188;95189;95190 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| N2AB | 30014 | 90265;90266;90267 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| N2A | 29087 | 87484;87485;87486 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| N2B | 22590 | 67993;67994;67995 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| Novex-1 | 22715 | 68368;68369;68370 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| Novex-2 | 22782 | 68569;68570;68571 | chr2:178546368;178546367;178546366 | chr2:179411095;179411094;179411093 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.994 | N | 0.561 | 0.388 | 0.449474494731 | gnomAD-4.0.0 | 3.18252E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| E/D | rs769555143  |
-0.005 | 0.998 | N | 0.543 | 0.196 | 0.386721274199 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/D | rs769555143 |
-0.005 | 0.998 | N | 0.543 | 0.196 | 0.386721274199 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/D | rs769555143 |
-0.005 | 0.998 | N | 0.543 | 0.196 | 0.386721274199 | gnomAD-4.0.0 | 2.47884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69525E-06 | 2.19573E-05 | 0 |
| E/K | None | None | 0.998 | D | 0.549 | 0.345 | 0.42324137094 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1616 | likely_benign | 0.1865 | benign | -0.523 | Destabilizing | 0.994 | D | 0.561 | neutral | N | 0.484669279 | None | None | N |
| E/C | 0.8655 | likely_pathogenic | 0.8904 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| E/D | 0.1713 | likely_benign | 0.2068 | benign | -0.425 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.504910151 | None | None | N |
| E/F | 0.7927 | likely_pathogenic | 0.8317 | pathogenic | -0.24 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| E/G | 0.2928 | likely_benign | 0.3213 | benign | -0.763 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.501420863 | None | None | N |
| E/H | 0.6299 | likely_pathogenic | 0.6903 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| E/I | 0.2721 | likely_benign | 0.3327 | benign | 0.092 | Stabilizing | 0.611 | D | 0.431 | neutral | None | None | None | None | N |
| E/K | 0.2766 | likely_benign | 0.3212 | benign | 0.154 | Stabilizing | 0.998 | D | 0.549 | neutral | D | 0.531403319 | None | None | N |
| E/L | 0.3788 | ambiguous | 0.4511 | ambiguous | 0.092 | Stabilizing | 0.983 | D | 0.54 | neutral | None | None | None | None | N |
| E/M | 0.4093 | ambiguous | 0.4774 | ambiguous | 0.238 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| E/N | 0.3547 | ambiguous | 0.4142 | ambiguous | -0.243 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | N |
| E/P | 0.3465 | ambiguous | 0.3757 | ambiguous | -0.092 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| E/Q | 0.1844 | likely_benign | 0.2155 | benign | -0.179 | Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.499392946 | None | None | N |
| E/R | 0.4497 | ambiguous | 0.4948 | ambiguous | 0.397 | Stabilizing | 1.0 | D | 0.574 | neutral | None | None | None | None | N |
| E/S | 0.305 | likely_benign | 0.3528 | ambiguous | -0.427 | Destabilizing | 0.999 | D | 0.53 | neutral | None | None | None | None | N |
| E/T | 0.2512 | likely_benign | 0.3038 | benign | -0.228 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| E/V | 0.1511 | likely_benign | 0.1841 | benign | -0.092 | Destabilizing | 0.978 | D | 0.527 | neutral | N | 0.509163964 | None | None | N |
| E/W | 0.9421 | likely_pathogenic | 0.9516 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| E/Y | 0.6728 | likely_pathogenic | 0.7223 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.608 | 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.