Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16568 | 49927;49928;49929 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| N2AB | 14927 | 45004;45005;45006 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| N2A | 14000 | 42223;42224;42225 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| N2B | 7503 | 22732;22733;22734 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| Novex-1 | 7628 | 23107;23108;23109 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| Novex-2 | 7695 | 23308;23309;23310 | chr2:178613019;178613018;178613017 | chr2:179477746;179477745;179477744 |
| 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/G | None | None | None | D | 0.644 | 0.236 | 0.500050830518 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/L | rs748296603  |
-0.303 | None | N | 0.203 | 0.081 | 0.110078149338 | gnomAD-2.1.1 | 5.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.5991E-04 | 7.83E-06 | 0 |
| V/L | rs748296603 |
-0.303 | None | N | 0.203 | 0.081 | 0.110078149338 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88324E-04 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs748296603 |
-0.303 | None | N | 0.203 | 0.081 | 0.110078149338 | gnomAD-4.0.0 | 1.36417E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.96838E-04 | 0 | 2.54394E-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 | 0.2944 | likely_benign | 0.3022 | benign | -2.096 | Highly Destabilizing | None | N | 0.218 | neutral | N | 0.453154914 | None | None | N |
| V/C | 0.5899 | likely_pathogenic | 0.5985 | pathogenic | -1.861 | Destabilizing | None | N | 0.406 | neutral | None | None | None | None | N |
| V/D | 0.974 | likely_pathogenic | 0.989 | pathogenic | -2.534 | Highly Destabilizing | 0.008 | N | 0.614 | neutral | None | None | None | None | N |
| V/E | 0.9079 | likely_pathogenic | 0.9529 | pathogenic | -2.242 | Highly Destabilizing | 0.003 | N | 0.599 | neutral | D | 0.654171772 | None | None | N |
| V/F | 0.4 | ambiguous | 0.3941 | ambiguous | -1.226 | Destabilizing | 0.002 | N | 0.538 | neutral | None | None | None | None | N |
| V/G | 0.6756 | likely_pathogenic | 0.7742 | pathogenic | -2.718 | Highly Destabilizing | None | N | 0.644 | neutral | D | 0.591751227 | None | None | N |
| V/H | 0.9167 | likely_pathogenic | 0.9426 | pathogenic | -2.553 | Highly Destabilizing | 0.116 | N | 0.759 | deleterious | None | None | None | None | N |
| V/I | 0.0776 | likely_benign | 0.0686 | benign | -0.326 | Destabilizing | None | N | 0.321 | neutral | N | 0.444805576 | None | None | N |
| V/K | 0.9011 | likely_pathogenic | 0.9535 | pathogenic | -1.684 | Destabilizing | 0.002 | N | 0.6 | neutral | None | None | None | None | N |
| V/L | 0.0669 | likely_benign | 0.0565 | benign | -0.326 | Destabilizing | None | N | 0.203 | neutral | N | 0.467041343 | None | None | N |
| V/M | 0.1976 | likely_benign | 0.1877 | benign | -0.596 | Destabilizing | 0.004 | N | 0.51 | neutral | None | None | None | None | N |
| V/N | 0.8826 | likely_pathogenic | 0.9346 | pathogenic | -2.201 | Highly Destabilizing | 0.018 | N | 0.613 | neutral | None | None | None | None | N |
| V/P | 0.9597 | likely_pathogenic | 0.9747 | pathogenic | -0.891 | Destabilizing | 0.008 | N | 0.595 | neutral | None | None | None | None | N |
| V/Q | 0.8031 | likely_pathogenic | 0.8668 | pathogenic | -1.887 | Destabilizing | 0.018 | N | 0.609 | neutral | None | None | None | None | N |
| V/R | 0.8075 | likely_pathogenic | 0.8982 | pathogenic | -1.766 | Destabilizing | 0.008 | N | 0.609 | neutral | None | None | None | None | N |
| V/S | 0.6911 | likely_pathogenic | 0.7562 | pathogenic | -2.899 | Highly Destabilizing | None | N | 0.596 | neutral | None | None | None | None | N |
| V/T | 0.4747 | ambiguous | 0.5154 | ambiguous | -2.428 | Highly Destabilizing | 0.001 | N | 0.391 | neutral | None | None | None | None | N |
| V/W | 0.9158 | likely_pathogenic | 0.9373 | pathogenic | -1.723 | Destabilizing | 0.316 | N | 0.765 | deleterious | None | None | None | None | N |
| V/Y | 0.8402 | likely_pathogenic | 0.8784 | pathogenic | -1.331 | Destabilizing | 0.018 | N | 0.559 | neutral | 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.