Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3030 | 9313;9314;9315 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| N2AB | 3030 | 9313;9314;9315 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| N2A | 3030 | 9313;9314;9315 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| N2B | 2984 | 9175;9176;9177 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| Novex-1 | 2984 | 9175;9176;9177 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| Novex-2 | 2984 | 9175;9176;9177 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
| Novex-3 | 3030 | 9313;9314;9315 | chr2:178768748;178768747;178768746 | chr2:179633475;179633474;179633473 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs895908518  |
-0.906 | 0.997 | D | 0.518 | 0.388 | 0.767850428655 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| V/I | rs895908518 |
-0.906 | 0.997 | D | 0.518 | 0.388 | 0.767850428655 | 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 |
| V/I | rs895908518 |
-0.906 | 0.997 | D | 0.518 | 0.388 | 0.767850428655 | gnomAD-4.0.0 | 2.47831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38977E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8771 | likely_pathogenic | 0.838 | pathogenic | -2.053 | Highly Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.513467345 | None | None | N |
| V/C | 0.9516 | likely_pathogenic | 0.9401 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -3.606 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.690703403 | None | None | N |
| V/E | 0.9969 | likely_pathogenic | 0.995 | pathogenic | -3.465 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/F | 0.9844 | likely_pathogenic | 0.9769 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.689125825 | None | None | N |
| V/G | 0.9594 | likely_pathogenic | 0.9431 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.690202102 | None | None | N |
| V/H | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/I | 0.2331 | likely_benign | 0.212 | benign | -0.9 | Destabilizing | 0.997 | D | 0.518 | neutral | D | 0.574217304 | None | None | N |
| V/K | 0.9975 | likely_pathogenic | 0.9965 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/L | 0.9205 | likely_pathogenic | 0.874 | pathogenic | -0.9 | Destabilizing | 0.997 | D | 0.551 | neutral | D | 0.523107336 | None | None | N |
| V/M | 0.921 | likely_pathogenic | 0.8685 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| V/N | 0.9934 | likely_pathogenic | 0.9892 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/P | 0.9893 | likely_pathogenic | 0.9904 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/Q | 0.996 | likely_pathogenic | 0.9941 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/R | 0.9945 | likely_pathogenic | 0.9927 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/S | 0.9537 | likely_pathogenic | 0.9361 | pathogenic | -2.771 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| V/T | 0.8583 | likely_pathogenic | 0.7663 | pathogenic | -2.516 | Highly Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/Y | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.825 | deleterious | 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.