Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15402 | 46429;46430;46431 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
N2AB | 13761 | 41506;41507;41508 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
N2A | 12834 | 38725;38726;38727 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
N2B | 6337 | 19234;19235;19236 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
Novex-1 | 6462 | 19609;19610;19611 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
Novex-2 | 6529 | 19810;19811;19812 | chr2:178620317;178620316;178620315 | chr2:179485044;179485043;179485042 |
Novex-3 | None | None | chr2:None | chr2:None |
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 | rs1559868004 | -0.948 | 0.948 | N | 0.433 | 0.623 | 0.690019882811 | gnomAD-2.1.1 | 4.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.99E-05 | None | 0 | 0 | 0 |
V/A | rs1559868004 | -0.948 | 0.948 | N | 0.433 | 0.623 | 0.690019882811 | gnomAD-4.0.0 | 5.58645E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.91105E-05 | 0 |
V/I | None | None | 0.198 | N | 0.205 | 0.22 | 0.59161276173 | gnomAD-4.0.0 | 3.32775E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.09789E-05 | 0 |
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 | 0.7096 | likely_pathogenic | 0.7432 | pathogenic | -0.97 | Destabilizing | 0.948 | D | 0.433 | neutral | N | 0.503397285 | None | None | N |
V/C | 0.9452 | likely_pathogenic | 0.9526 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.53 | neutral | None | None | None | None | N |
V/D | 0.9892 | likely_pathogenic | 0.9915 | pathogenic | -0.771 | Destabilizing | 0.999 | D | 0.64 | neutral | D | 0.699449773 | None | None | N |
V/E | 0.9469 | likely_pathogenic | 0.9592 | pathogenic | -0.874 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
V/F | 0.8275 | likely_pathogenic | 0.8543 | pathogenic | -1.19 | Destabilizing | 0.997 | D | 0.546 | neutral | D | 0.595300086 | None | None | N |
V/G | 0.8942 | likely_pathogenic | 0.8986 | pathogenic | -1.154 | Destabilizing | 0.999 | D | 0.647 | neutral | D | 0.607525672 | None | None | N |
V/H | 0.9876 | likely_pathogenic | 0.9921 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
V/I | 0.124 | likely_benign | 0.1214 | benign | -0.613 | Destabilizing | 0.198 | N | 0.205 | neutral | N | 0.515046642 | None | None | N |
V/K | 0.9109 | likely_pathogenic | 0.9429 | pathogenic | -0.658 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | N |
V/L | 0.6944 | likely_pathogenic | 0.731 | pathogenic | -0.613 | Destabilizing | 0.9 | D | 0.334 | neutral | D | 0.573501378 | None | None | N |
V/M | 0.6103 | likely_pathogenic | 0.6438 | pathogenic | -0.351 | Destabilizing | 0.998 | D | 0.548 | neutral | None | None | None | None | N |
V/N | 0.9693 | likely_pathogenic | 0.9775 | pathogenic | -0.319 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
V/P | 0.9964 | likely_pathogenic | 0.9979 | pathogenic | -0.697 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
V/Q | 0.9288 | likely_pathogenic | 0.9521 | pathogenic | -0.629 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
V/R | 0.8892 | likely_pathogenic | 0.9262 | pathogenic | -0.11 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
V/S | 0.9135 | likely_pathogenic | 0.93 | pathogenic | -0.721 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | N |
V/T | 0.7424 | likely_pathogenic | 0.776 | pathogenic | -0.728 | Destabilizing | 0.992 | D | 0.495 | neutral | None | None | None | None | N |
V/W | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
V/Y | 0.9824 | likely_pathogenic | 0.9867 | pathogenic | -0.956 | Destabilizing | 0.999 | D | 0.543 | 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.