Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32909 | 98950;98951;98952 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| N2AB | 31268 | 94027;94028;94029 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| N2A | 30341 | 91246;91247;91248 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| N2B | 23844 | 71755;71756;71757 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| Novex-1 | 23969 | 72130;72131;72132 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| Novex-2 | 24036 | 72331;72332;72333 | chr2:178539210;178539209;178539208 | chr2:179403937;179403936;179403935 |
| 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/A | rs368877793  |
-1.162 | 0.939 | N | 0.425 | 0.305 | None | gnomAD-2.1.1 | 1.46317E-04 | None | None | None | None | N | None | 0 | 1.98121E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.41938E-04 | 4.21112E-04 |
| V/A | rs368877793 |
-1.162 | 0.939 | N | 0.425 | 0.305 | None | gnomAD-3.1.2 | 2.03658E-04 | None | None | None | None | N | None | 4.82E-05 | 3.27225E-04 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 3.38086E-04 | 0 | 0 |
| V/A | rs368877793 |
-1.162 | 0.939 | N | 0.425 | 0.305 | None | gnomAD-4.0.0 | 2.69567E-04 | None | None | None | None | N | None | 4.00363E-05 | 2.33357E-04 | None | 0 | 0 | None | 1.56206E-05 | 0 | 3.42442E-04 | 0 | 2.0818E-04 |
| V/I | rs1161873728 |
-0.592 | 0.046 | N | 0.226 | 0.111 | 0.309530620856 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1161873728 |
-0.592 | 0.046 | N | 0.226 | 0.111 | 0.309530620856 | gnomAD-4.0.0 | 3.18283E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 2.77331E-05 | 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 | 0.5792 | likely_pathogenic | 0.5511 | ambiguous | -1.466 | Destabilizing | 0.939 | D | 0.425 | neutral | N | 0.516809508 | None | None | N |
| V/C | 0.8919 | likely_pathogenic | 0.8641 | pathogenic | -1.515 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/D | 0.9402 | likely_pathogenic | 0.9431 | pathogenic | -2.134 | Highly Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| V/E | 0.8353 | likely_pathogenic | 0.8334 | pathogenic | -2.139 | Highly Destabilizing | 0.997 | D | 0.761 | deleterious | N | 0.508252539 | None | None | N |
| V/F | 0.535 | ambiguous | 0.5534 | ambiguous | -1.429 | Destabilizing | 0.986 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/G | 0.7807 | likely_pathogenic | 0.7861 | pathogenic | -1.755 | Destabilizing | 0.997 | D | 0.801 | deleterious | N | 0.503190111 | None | None | N |
| V/H | 0.9384 | likely_pathogenic | 0.9376 | pathogenic | -1.388 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| V/I | 0.0762 | likely_benign | 0.0724 | benign | -0.766 | Destabilizing | 0.046 | N | 0.226 | neutral | N | 0.445426625 | None | None | N |
| V/K | 0.7923 | likely_pathogenic | 0.8172 | pathogenic | -1.236 | Destabilizing | 0.993 | D | 0.762 | deleterious | None | None | None | None | N |
| V/L | 0.5287 | ambiguous | 0.5306 | ambiguous | -0.766 | Destabilizing | 0.76 | D | 0.356 | neutral | N | 0.519887098 | None | None | N |
| V/M | 0.3325 | likely_benign | 0.3089 | benign | -0.723 | Destabilizing | 0.986 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/N | 0.8382 | likely_pathogenic | 0.8125 | pathogenic | -1.213 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | N |
| V/P | 0.9721 | likely_pathogenic | 0.9822 | pathogenic | -0.967 | Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| V/Q | 0.8061 | likely_pathogenic | 0.7921 | pathogenic | -1.451 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| V/R | 0.7538 | likely_pathogenic | 0.7855 | pathogenic | -0.756 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| V/S | 0.7139 | likely_pathogenic | 0.6644 | pathogenic | -1.65 | Destabilizing | 0.993 | D | 0.763 | deleterious | None | None | None | None | N |
| V/T | 0.4621 | ambiguous | 0.3882 | ambiguous | -1.55 | Destabilizing | 0.953 | D | 0.567 | neutral | None | None | None | None | N |
| V/W | 0.9785 | likely_pathogenic | 0.9799 | pathogenic | -1.637 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.9011 | likely_pathogenic | 0.8961 | pathogenic | -1.283 | Destabilizing | 0.998 | D | 0.749 | 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.