Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 16842 | 50749;50750;50751 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
N2AB | 15201 | 45826;45827;45828 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
N2A | 14274 | 43045;43046;43047 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
N2B | 7777 | 23554;23555;23556 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
Novex-1 | 7902 | 23929;23930;23931 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
Novex-2 | 7969 | 24130;24131;24132 | chr2:178611785;178611784;178611783 | chr2:179476512;179476511;179476510 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/K | None | None | 0.799 | N | 0.571 | 0.221 | 0.292062946507 | gnomAD-4.0.0 | 1.59391E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86229E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.2504 | likely_benign | 0.2078 | benign | -0.116 | Destabilizing | 0.799 | D | 0.596 | neutral | N | 0.470490728 | None | None | I |
E/C | 0.9248 | likely_pathogenic | 0.8994 | pathogenic | -0.309 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | I |
E/D | 0.0717 | likely_benign | 0.0717 | benign | -0.304 | Destabilizing | 0.002 | N | 0.169 | neutral | N | 0.455392981 | None | None | I |
E/F | 0.919 | likely_pathogenic | 0.8807 | pathogenic | -0.034 | Destabilizing | 0.991 | D | 0.789 | deleterious | None | None | None | None | I |
E/G | 0.2534 | likely_benign | 0.2084 | benign | -0.261 | Destabilizing | 0.799 | D | 0.587 | neutral | N | 0.473923389 | None | None | I |
E/H | 0.7066 | likely_pathogenic | 0.6192 | pathogenic | 0.604 | Stabilizing | 0.991 | D | 0.55 | neutral | None | None | None | None | I |
E/I | 0.6387 | likely_pathogenic | 0.5696 | pathogenic | 0.217 | Stabilizing | 0.974 | D | 0.798 | deleterious | None | None | None | None | I |
E/K | 0.3485 | ambiguous | 0.2443 | benign | 0.328 | Stabilizing | 0.799 | D | 0.571 | neutral | N | 0.471862583 | None | None | I |
E/L | 0.6343 | likely_pathogenic | 0.5807 | pathogenic | 0.217 | Stabilizing | 0.974 | D | 0.745 | deleterious | None | None | None | None | I |
E/M | 0.7169 | likely_pathogenic | 0.6407 | pathogenic | -0.045 | Destabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | I |
E/N | 0.2709 | likely_benign | 0.2269 | benign | -0.002 | Destabilizing | 0.725 | D | 0.582 | neutral | None | None | None | None | I |
E/P | 0.5304 | ambiguous | 0.4868 | ambiguous | 0.125 | Stabilizing | 0.974 | D | 0.589 | neutral | None | None | None | None | I |
E/Q | 0.2788 | likely_benign | 0.2239 | benign | 0.03 | Stabilizing | 0.89 | D | 0.546 | neutral | N | 0.47138682 | None | None | I |
E/R | 0.5437 | ambiguous | 0.4191 | ambiguous | 0.658 | Stabilizing | 0.974 | D | 0.538 | neutral | None | None | None | None | I |
E/S | 0.2561 | likely_benign | 0.2151 | benign | -0.15 | Destabilizing | 0.841 | D | 0.568 | neutral | None | None | None | None | I |
E/T | 0.3655 | ambiguous | 0.3041 | benign | -0.021 | Destabilizing | 0.841 | D | 0.638 | neutral | None | None | None | None | I |
E/V | 0.4019 | ambiguous | 0.341 | ambiguous | 0.125 | Stabilizing | 0.966 | D | 0.649 | prob.neutral | N | 0.466674818 | None | None | I |
E/W | 0.9756 | likely_pathogenic | 0.9581 | pathogenic | 0.061 | Stabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | I |
E/Y | 0.8375 | likely_pathogenic | 0.7708 | pathogenic | 0.201 | Stabilizing | 0.991 | D | 0.775 | deleterious | 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.