Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2587 | 7984;7985;7986 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| N2AB | 2587 | 7984;7985;7986 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| N2A | 2587 | 7984;7985;7986 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| N2B | 2541 | 7846;7847;7848 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| Novex-1 | 2541 | 7846;7847;7848 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| Novex-2 | 2541 | 7846;7847;7848 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
| Novex-3 | 2587 | 7984;7985;7986 | chr2:178773205;178773204;178773203 | chr2:179637932;179637931;179637930 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs375047082  |
-0.818 | 1.0 | N | 0.776 | 0.562 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 1.24719E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs375047082 |
-0.818 | 1.0 | N | 0.776 | 0.562 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs375047082 |
-0.818 | 1.0 | N | 0.776 | 0.562 | None | gnomAD-4.0.0 | 5.57716E-06 | None | None | None | None | N | None | 2.66987E-05 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 2.54256E-06 | 2.19669E-05 | 1.60077E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8946 | likely_pathogenic | 0.8751 | pathogenic | -2.869 | Highly Destabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | N |
| Y/C | 0.2394 | likely_benign | 0.1964 | benign | -1.938 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.452694839 | None | None | N |
| Y/D | 0.9565 | likely_pathogenic | 0.9416 | pathogenic | -3.422 | Highly Destabilizing | 0.997 | D | 0.797 | deleterious | D | 0.522524418 | None | None | N |
| Y/E | 0.9685 | likely_pathogenic | 0.9581 | pathogenic | -3.185 | Highly Destabilizing | 0.985 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/F | 0.1684 | likely_benign | 0.1661 | benign | -0.996 | Destabilizing | 0.99 | D | 0.669 | neutral | N | 0.443832414 | None | None | N |
| Y/G | 0.8976 | likely_pathogenic | 0.8725 | pathogenic | -3.323 | Highly Destabilizing | 0.993 | D | 0.784 | deleterious | None | None | None | None | N |
| Y/H | 0.2535 | likely_benign | 0.2197 | benign | -2.167 | Highly Destabilizing | 0.135 | N | 0.421 | neutral | N | 0.399174001 | None | None | N |
| Y/I | 0.8332 | likely_pathogenic | 0.7933 | pathogenic | -1.359 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/K | 0.9269 | likely_pathogenic | 0.8916 | pathogenic | -2.345 | Highly Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| Y/L | 0.7623 | likely_pathogenic | 0.7178 | pathogenic | -1.359 | Destabilizing | 0.993 | D | 0.745 | deleterious | None | None | None | None | N |
| Y/M | 0.8943 | likely_pathogenic | 0.8779 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| Y/N | 0.6894 | likely_pathogenic | 0.6449 | pathogenic | -3.273 | Highly Destabilizing | 0.994 | D | 0.769 | deleterious | N | 0.521673322 | None | None | N |
| Y/P | 0.9948 | likely_pathogenic | 0.9935 | pathogenic | -1.878 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/Q | 0.8177 | likely_pathogenic | 0.7606 | pathogenic | -2.901 | Highly Destabilizing | 0.998 | D | 0.77 | deleterious | None | None | None | None | N |
| Y/R | 0.7216 | likely_pathogenic | 0.6374 | pathogenic | -2.33 | Highly Destabilizing | 0.996 | D | 0.759 | deleterious | None | None | None | None | N |
| Y/S | 0.6611 | likely_pathogenic | 0.6253 | pathogenic | -3.607 | Highly Destabilizing | 0.99 | D | 0.767 | deleterious | N | 0.444883677 | None | None | N |
| Y/T | 0.8682 | likely_pathogenic | 0.8519 | pathogenic | -3.23 | Highly Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | N |
| Y/V | 0.741 | likely_pathogenic | 0.6891 | pathogenic | -1.878 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| Y/W | 0.5253 | ambiguous | 0.5083 | ambiguous | -0.301 | Destabilizing | 1.0 | D | 0.746 | 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.