Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27531 | 82816;82817;82818 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| N2AB | 25890 | 77893;77894;77895 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| N2A | 24963 | 75112;75113;75114 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| N2B | 18466 | 55621;55622;55623 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| Novex-1 | 18591 | 55996;55997;55998 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| Novex-2 | 18658 | 56197;56198;56199 | chr2:178563541;178563540;178563539 | chr2:179428268;179428267;179428266 |
| 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/I | rs1190495036  |
None | 0.98 | N | 0.576 | 0.259 | 0.478527412683 | 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 | rs1190495036 |
None | 0.98 | N | 0.576 | 0.259 | 0.478527412683 | gnomAD-4.0.0 | 2.56227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78634E-06 | 0 | 0 |
| V/L | rs1190495036 |
-0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1190495036 |
-0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1190495036 |
-0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | gnomAD-4.0.0 | 2.56227E-06 | None | None | None | None | N | None | 0 | 3.38972E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4539 | ambiguous | 0.4185 | ambiguous | -1.848 | Destabilizing | 0.248 | N | 0.33 | neutral | N | 0.481455459 | None | None | N |
| V/C | 0.8788 | likely_pathogenic | 0.8679 | pathogenic | -1.423 | Destabilizing | 0.191 | N | 0.616 | neutral | None | None | None | None | N |
| V/D | 0.9871 | likely_pathogenic | 0.9841 | pathogenic | -1.81 | Destabilizing | 0.996 | D | 0.862 | deleterious | None | None | None | None | N |
| V/E | 0.9623 | likely_pathogenic | 0.9584 | pathogenic | -1.63 | Destabilizing | 0.994 | D | 0.834 | deleterious | D | 0.554303779 | None | None | N |
| V/F | 0.744 | likely_pathogenic | 0.6999 | pathogenic | -1.114 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| V/G | 0.7556 | likely_pathogenic | 0.7201 | pathogenic | -2.36 | Highly Destabilizing | 0.925 | D | 0.786 | deleterious | D | 0.542947474 | None | None | N |
| V/H | 0.9873 | likely_pathogenic | 0.9855 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/I | 0.1253 | likely_benign | 0.1161 | benign | -0.452 | Destabilizing | 0.98 | D | 0.576 | neutral | N | 0.510806255 | None | None | N |
| V/K | 0.9806 | likely_pathogenic | 0.9796 | pathogenic | -1.532 | Destabilizing | 0.991 | D | 0.834 | deleterious | None | None | None | None | N |
| V/L | 0.6215 | likely_pathogenic | 0.5715 | pathogenic | -0.452 | Destabilizing | 0.91 | D | 0.679 | prob.neutral | N | 0.521884466 | None | None | N |
| V/M | 0.5719 | likely_pathogenic | 0.5551 | ambiguous | -0.466 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/N | 0.9504 | likely_pathogenic | 0.9426 | pathogenic | -1.71 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| V/P | 0.981 | likely_pathogenic | 0.9722 | pathogenic | -0.886 | Destabilizing | 0.996 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Q | 0.9577 | likely_pathogenic | 0.9547 | pathogenic | -1.59 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| V/R | 0.9698 | likely_pathogenic | 0.9678 | pathogenic | -1.332 | Destabilizing | 0.996 | D | 0.856 | deleterious | None | None | None | None | N |
| V/S | 0.7795 | likely_pathogenic | 0.7594 | pathogenic | -2.404 | Highly Destabilizing | 0.942 | D | 0.763 | deleterious | None | None | None | None | N |
| V/T | 0.7169 | likely_pathogenic | 0.7115 | pathogenic | -2.066 | Highly Destabilizing | 0.97 | D | 0.668 | neutral | None | None | None | None | N |
| V/W | 0.9947 | likely_pathogenic | 0.9937 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Y | 0.9663 | likely_pathogenic | 0.9577 | pathogenic | -1.119 | Destabilizing | 0.999 | D | 0.774 | 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.