Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18896 | 56911;56912;56913 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| N2AB | 17255 | 51988;51989;51990 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| N2A | 16328 | 49207;49208;49209 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| N2B | 9831 | 29716;29717;29718 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| Novex-1 | 9956 | 30091;30092;30093 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| Novex-2 | 10023 | 30292;30293;30294 | chr2:178599024;178599023;178599022 | chr2:179463751;179463750;179463749 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs370629962  |
-0.471 | 0.908 | N | 0.639 | 0.211 | None | gnomAD-2.1.1 | 1.0294E-04 | None | None | None | None | N | None | 6.69E-05 | 3.19E-05 | None | 0 | 6.96298E-04 | None | 1.44886E-04 | None | 4.77E-05 | 3.76E-05 | 1.79211E-04 |
| V/M | rs370629962 |
-0.471 | 0.908 | N | 0.639 | 0.211 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 1.9478E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs370629962 |
-0.471 | 0.908 | N | 0.639 | 0.211 | None | gnomAD-4.0.0 | 5.96478E-05 | None | None | None | None | N | None | 1.21428E-04 | 1.74654E-05 | None | 3.45877E-05 | 3.84929E-04 | None | 0 | 0 | 3.67933E-05 | 6.82718E-05 | 2.92683E-04 |
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 | 0.4033 | ambiguous | 0.4565 | ambiguous | -0.673 | Destabilizing | 0.334 | N | 0.431 | neutral | N | 0.516001431 | None | None | N |
| V/C | 0.8268 | likely_pathogenic | 0.8151 | pathogenic | -0.746 | Destabilizing | 0.982 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/D | 0.9176 | likely_pathogenic | 0.9301 | pathogenic | -0.305 | Destabilizing | 0.826 | D | 0.821 | deleterious | None | None | None | None | N |
| V/E | 0.8034 | likely_pathogenic | 0.8156 | pathogenic | -0.403 | Destabilizing | 0.781 | D | 0.787 | deleterious | D | 0.528331803 | None | None | N |
| V/F | 0.4239 | ambiguous | 0.4774 | ambiguous | -1.025 | Destabilizing | 0.7 | D | 0.757 | deleterious | None | None | None | None | N |
| V/G | 0.6479 | likely_pathogenic | 0.6884 | pathogenic | -0.812 | Destabilizing | 0.781 | D | 0.814 | deleterious | N | 0.50039218 | None | None | N |
| V/H | 0.9155 | likely_pathogenic | 0.9205 | pathogenic | -0.524 | Destabilizing | 0.982 | D | 0.811 | deleterious | None | None | None | None | N |
| V/I | 0.0675 | likely_benign | 0.0696 | benign | -0.446 | Destabilizing | 0.002 | N | 0.183 | neutral | None | None | None | None | N |
| V/K | 0.8033 | likely_pathogenic | 0.7864 | pathogenic | -0.319 | Destabilizing | 0.826 | D | 0.787 | deleterious | None | None | None | None | N |
| V/L | 0.4219 | ambiguous | 0.4569 | ambiguous | -0.446 | Destabilizing | 0.083 | N | 0.307 | neutral | N | 0.471105749 | None | None | N |
| V/M | 0.2824 | likely_benign | 0.3127 | benign | -0.319 | Destabilizing | 0.908 | D | 0.639 | neutral | N | 0.493301836 | None | None | N |
| V/N | 0.7654 | likely_pathogenic | 0.7767 | pathogenic | -0.121 | Destabilizing | 0.935 | D | 0.819 | deleterious | None | None | None | None | N |
| V/P | 0.7887 | likely_pathogenic | 0.7545 | pathogenic | -0.488 | Destabilizing | 0.935 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Q | 0.7452 | likely_pathogenic | 0.7471 | pathogenic | -0.395 | Destabilizing | 0.935 | D | 0.791 | deleterious | None | None | None | None | N |
| V/R | 0.7557 | likely_pathogenic | 0.7558 | pathogenic | 0.092 | Stabilizing | 0.826 | D | 0.817 | deleterious | None | None | None | None | N |
| V/S | 0.5753 | likely_pathogenic | 0.6187 | pathogenic | -0.545 | Destabilizing | 0.826 | D | 0.779 | deleterious | None | None | None | None | N |
| V/T | 0.4525 | ambiguous | 0.4722 | ambiguous | -0.544 | Destabilizing | 0.399 | N | 0.528 | neutral | None | None | None | None | N |
| V/W | 0.9622 | likely_pathogenic | 0.9646 | pathogenic | -1.088 | Destabilizing | 0.982 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Y | 0.8495 | likely_pathogenic | 0.8486 | pathogenic | -0.727 | Destabilizing | 0.826 | D | 0.77 | 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.