Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15974 | 48145;48146;48147 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
N2AB | 14333 | 43222;43223;43224 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
N2A | 13406 | 40441;40442;40443 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
N2B | 6909 | 20950;20951;20952 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
Novex-1 | 7034 | 21325;21326;21327 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
Novex-2 | 7101 | 21526;21527;21528 | chr2:178616969;178616968;178616967 | chr2:179481696;179481695;179481694 |
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/I | rs1346269011 | -0.405 | 0.016 | N | 0.275 | 0.076 | 0.32471235697 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
V/I | rs1346269011 | -0.405 | 0.016 | N | 0.275 | 0.076 | 0.32471235697 | gnomAD-4.0.0 | 1.36925E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79988E-06 | 0 | 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 | 0.7053 | likely_pathogenic | 0.7156 | pathogenic | -2.016 | Highly Destabilizing | 0.834 | D | 0.484 | neutral | D | 0.53897833 | None | None | I |
V/C | 0.9149 | likely_pathogenic | 0.9128 | pathogenic | -1.646 | Destabilizing | 0.998 | D | 0.695 | prob.neutral | None | None | None | None | I |
V/D | 0.9555 | likely_pathogenic | 0.9542 | pathogenic | -2.407 | Highly Destabilizing | 0.973 | D | 0.742 | deleterious | D | 0.614499048 | None | None | I |
V/E | 0.918 | likely_pathogenic | 0.9134 | pathogenic | -2.279 | Highly Destabilizing | 0.979 | D | 0.707 | prob.neutral | None | None | None | None | I |
V/F | 0.7122 | likely_pathogenic | 0.7122 | pathogenic | -1.303 | Destabilizing | 0.946 | D | 0.719 | prob.delet. | D | 0.571685124 | None | None | I |
V/G | 0.7583 | likely_pathogenic | 0.7569 | pathogenic | -2.462 | Highly Destabilizing | 0.973 | D | 0.743 | deleterious | D | 0.612585371 | None | None | I |
V/H | 0.9794 | likely_pathogenic | 0.9773 | pathogenic | -2.077 | Highly Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | I |
V/I | 0.1736 | likely_benign | 0.1727 | benign | -0.818 | Destabilizing | 0.016 | N | 0.275 | neutral | N | 0.46744077 | None | None | I |
V/K | 0.9439 | likely_pathogenic | 0.9359 | pathogenic | -1.694 | Destabilizing | 0.979 | D | 0.705 | prob.neutral | None | None | None | None | I |
V/L | 0.8152 | likely_pathogenic | 0.8148 | pathogenic | -0.818 | Destabilizing | 0.263 | N | 0.415 | neutral | D | 0.56666651 | None | None | I |
V/M | 0.6819 | likely_pathogenic | 0.6664 | pathogenic | -0.858 | Destabilizing | 0.959 | D | 0.671 | neutral | None | None | None | None | I |
V/N | 0.9098 | likely_pathogenic | 0.9123 | pathogenic | -1.79 | Destabilizing | 0.993 | D | 0.749 | deleterious | None | None | None | None | I |
V/P | 0.9913 | likely_pathogenic | 0.9923 | pathogenic | -1.188 | Destabilizing | 0.993 | D | 0.717 | prob.delet. | None | None | None | None | I |
V/Q | 0.9303 | likely_pathogenic | 0.9275 | pathogenic | -1.794 | Destabilizing | 0.993 | D | 0.722 | prob.delet. | None | None | None | None | I |
V/R | 0.9196 | likely_pathogenic | 0.9191 | pathogenic | -1.339 | Destabilizing | 0.979 | D | 0.747 | deleterious | None | None | None | None | I |
V/S | 0.8576 | likely_pathogenic | 0.8655 | pathogenic | -2.385 | Highly Destabilizing | 0.979 | D | 0.717 | prob.delet. | None | None | None | None | I |
V/T | 0.7072 | likely_pathogenic | 0.681 | pathogenic | -2.135 | Highly Destabilizing | 0.87 | D | 0.627 | neutral | None | None | None | None | I |
V/W | 0.9933 | likely_pathogenic | 0.9929 | pathogenic | -1.686 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | I |
V/Y | 0.9424 | likely_pathogenic | 0.939 | pathogenic | -1.356 | Destabilizing | 0.979 | D | 0.721 | prob.delet. | None | None | None | None | I |
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.