Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 991 | 3196;3197;3198 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
N2AB | 991 | 3196;3197;3198 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
N2A | 991 | 3196;3197;3198 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
N2B | 945 | 3058;3059;3060 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
Novex-1 | 945 | 3058;3059;3060 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
Novex-2 | 945 | 3058;3059;3060 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
Novex-3 | 991 | 3196;3197;3198 | chr2:178782935;178782934;178782933 | chr2:179647662;179647661;179647660 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/M | None | None | 0.075 | D | 0.4 | 0.358 | 0.394230963961 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.952 | likely_pathogenic | 0.9593 | pathogenic | -1.948 | Destabilizing | 0.415 | N | 0.538 | neutral | None | None | None | None | I |
I/C | 0.9699 | likely_pathogenic | 0.9739 | pathogenic | -1.254 | Destabilizing | 0.996 | D | 0.609 | neutral | None | None | None | None | I |
I/D | 0.9923 | likely_pathogenic | 0.9938 | pathogenic | -1.261 | Destabilizing | 0.961 | D | 0.705 | prob.neutral | None | None | None | None | I |
I/E | 0.972 | likely_pathogenic | 0.9761 | pathogenic | -1.182 | Destabilizing | 0.961 | D | 0.705 | prob.neutral | None | None | None | None | I |
I/F | 0.6148 | likely_pathogenic | 0.6334 | pathogenic | -1.275 | Destabilizing | 0.923 | D | 0.503 | neutral | None | None | None | None | I |
I/G | 0.9893 | likely_pathogenic | 0.9914 | pathogenic | -2.363 | Highly Destabilizing | 0.961 | D | 0.682 | prob.neutral | None | None | None | None | I |
I/H | 0.966 | likely_pathogenic | 0.9735 | pathogenic | -1.615 | Destabilizing | 0.996 | D | 0.727 | prob.delet. | None | None | None | None | I |
I/K | 0.895 | likely_pathogenic | 0.9137 | pathogenic | -1.304 | Destabilizing | 0.901 | D | 0.687 | prob.neutral | D | 0.606420224 | None | None | I |
I/L | 0.3877 | ambiguous | 0.4057 | ambiguous | -0.839 | Destabilizing | 0.075 | N | 0.361 | neutral | N | 0.49834967 | None | None | I |
I/M | 0.218 | likely_benign | 0.2348 | benign | -0.693 | Destabilizing | 0.075 | N | 0.4 | neutral | D | 0.548498496 | None | None | I |
I/N | 0.9067 | likely_pathogenic | 0.9199 | pathogenic | -1.225 | Destabilizing | 0.961 | D | 0.717 | prob.delet. | None | None | None | None | I |
I/P | 0.9906 | likely_pathogenic | 0.9926 | pathogenic | -1.179 | Destabilizing | 0.987 | D | 0.723 | prob.delet. | None | None | None | None | I |
I/Q | 0.9319 | likely_pathogenic | 0.9455 | pathogenic | -1.284 | Destabilizing | 0.961 | D | 0.733 | prob.delet. | None | None | None | None | I |
I/R | 0.8918 | likely_pathogenic | 0.9135 | pathogenic | -0.851 | Destabilizing | 0.901 | D | 0.724 | prob.delet. | D | 0.565203256 | None | None | I |
I/S | 0.9477 | likely_pathogenic | 0.9568 | pathogenic | -1.951 | Destabilizing | 0.633 | D | 0.625 | neutral | None | None | None | None | I |
I/T | 0.9131 | likely_pathogenic | 0.919 | pathogenic | -1.734 | Destabilizing | 0.034 | N | 0.367 | neutral | D | 0.546292518 | None | None | I |
I/V | 0.247 | likely_benign | 0.2488 | benign | -1.179 | Destabilizing | 0.19 | N | 0.389 | neutral | N | 0.50421009 | None | None | I |
I/W | 0.9779 | likely_pathogenic | 0.9827 | pathogenic | -1.413 | Destabilizing | 0.996 | D | 0.75 | deleterious | None | None | None | None | I |
I/Y | 0.9114 | likely_pathogenic | 0.9211 | pathogenic | -1.165 | Destabilizing | 0.961 | D | 0.617 | neutral | 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.