Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 7917 | 23974;23975;23976 | chr2:178719743;178719742;178719741 | chr2:179584470;179584469;179584468 |
N2AB | 7600 | 23023;23024;23025 | chr2:178719743;178719742;178719741 | chr2:179584470;179584469;179584468 |
N2A | 6673 | 20242;20243;20244 | chr2:178719743;178719742;178719741 | chr2:179584470;179584469;179584468 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 | rs1288323003 | 0.801 | 0.37 | N | 0.373 | 0.28 | 0.318252033908 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
E/K | rs1288323003 | 0.801 | 0.37 | N | 0.373 | 0.28 | 0.318252033908 | gnomAD-4.0.0 | 2.05276E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.5582E-05 | None | 0 | 0 | 0 | 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 | 0.1566 | likely_benign | 0.1714 | benign | -0.044 | Destabilizing | 0.37 | N | 0.42 | neutral | N | 0.484264432 | None | None | I |
E/C | 0.8967 | likely_pathogenic | 0.9028 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
E/D | 0.1531 | likely_benign | 0.161 | benign | -0.257 | Destabilizing | 0.989 | D | 0.482 | neutral | N | 0.49830331 | None | None | I |
E/F | 0.772 | likely_pathogenic | 0.7805 | pathogenic | -0.024 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
E/G | 0.2448 | likely_benign | 0.2551 | benign | -0.179 | Destabilizing | 0.978 | D | 0.612 | neutral | D | 0.523234874 | None | None | I |
E/H | 0.4978 | ambiguous | 0.5259 | ambiguous | 0.511 | Stabilizing | 1.0 | D | 0.483 | neutral | None | None | None | None | I |
E/I | 0.3815 | ambiguous | 0.3942 | ambiguous | 0.256 | Stabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | I |
E/K | 0.1692 | likely_benign | 0.1815 | benign | 0.502 | Stabilizing | 0.37 | N | 0.373 | neutral | N | 0.503736715 | None | None | I |
E/L | 0.411 | ambiguous | 0.4298 | ambiguous | 0.256 | Stabilizing | 0.995 | D | 0.604 | neutral | None | None | None | None | I |
E/M | 0.4949 | ambiguous | 0.5172 | ambiguous | 0.077 | Stabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | I |
E/N | 0.3082 | likely_benign | 0.3255 | benign | 0.206 | Stabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | I |
E/P | 0.3637 | ambiguous | 0.3925 | ambiguous | 0.175 | Stabilizing | 0.998 | D | 0.56 | neutral | None | None | None | None | I |
E/Q | 0.1482 | likely_benign | 0.1584 | benign | 0.228 | Stabilizing | 0.994 | D | 0.467 | neutral | D | 0.527536294 | None | None | I |
E/R | 0.2838 | likely_benign | 0.3028 | benign | 0.72 | Stabilizing | 0.99 | D | 0.495 | neutral | None | None | None | None | I |
E/S | 0.2308 | likely_benign | 0.2396 | benign | 0.072 | Stabilizing | 0.967 | D | 0.517 | neutral | None | None | None | None | I |
E/T | 0.2737 | likely_benign | 0.2903 | benign | 0.192 | Stabilizing | 0.983 | D | 0.551 | neutral | None | None | None | None | I |
E/V | 0.2206 | likely_benign | 0.2325 | benign | 0.175 | Stabilizing | 0.994 | D | 0.561 | neutral | N | 0.492520093 | None | None | I |
E/W | 0.9227 | likely_pathogenic | 0.9285 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
E/Y | 0.6409 | likely_pathogenic | 0.6589 | pathogenic | 0.212 | Stabilizing | 0.999 | D | 0.641 | 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.