Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 13768 | 41527;41528;41529 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
N2AB | 12127 | 36604;36605;36606 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
N2A | 11200 | 33823;33824;33825 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
N2B | 4703 | 14332;14333;14334 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
Novex-1 | 4828 | 14707;14708;14709 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
Novex-2 | 4895 | 14908;14909;14910 | chr2:178636425;178636424;178636423 | chr2:179501152;179501151;179501150 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/I | None | None | 0.667 | N | 0.758 | 0.379 | 0.449572021084 | gnomAD-4.0.0 | 1.37152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.802E-06 | 0 | 0 |
T/P | None | None | 0.667 | D | 0.755 | 0.498 | 0.460616323599 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
T/S | None | None | 0.011 | N | 0.275 | 0.155 | 0.141422826196 | gnomAD-4.0.0 | 6.85761E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00998E-07 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/A | 0.1982 | likely_benign | 0.2444 | benign | -0.808 | Destabilizing | 0.055 | N | 0.65 | neutral | N | 0.518595915 | None | None | N |
T/C | 0.7981 | likely_pathogenic | 0.8461 | pathogenic | -0.489 | Destabilizing | 0.968 | D | 0.729 | prob.delet. | None | None | None | None | N |
T/D | 0.795 | likely_pathogenic | 0.87 | pathogenic | 0.143 | Stabilizing | 0.157 | N | 0.778 | deleterious | None | None | None | None | N |
T/E | 0.5941 | likely_pathogenic | 0.6942 | pathogenic | 0.151 | Stabilizing | 0.157 | N | 0.773 | deleterious | None | None | None | None | N |
T/F | 0.4953 | ambiguous | 0.5874 | pathogenic | -0.899 | Destabilizing | 0.89 | D | 0.797 | deleterious | None | None | None | None | N |
T/G | 0.6463 | likely_pathogenic | 0.706 | pathogenic | -1.066 | Destabilizing | 0.157 | N | 0.773 | deleterious | None | None | None | None | N |
T/H | 0.4622 | ambiguous | 0.5623 | ambiguous | -1.265 | Destabilizing | 0.832 | D | 0.779 | deleterious | None | None | None | None | N |
T/I | 0.34 | likely_benign | 0.4161 | ambiguous | -0.215 | Destabilizing | 0.667 | D | 0.758 | deleterious | N | 0.51152694 | None | None | N |
T/K | 0.4111 | ambiguous | 0.4983 | ambiguous | -0.557 | Destabilizing | 0.157 | N | 0.769 | deleterious | None | None | None | None | N |
T/L | 0.2782 | likely_benign | 0.3378 | benign | -0.215 | Destabilizing | 0.272 | N | 0.774 | deleterious | None | None | None | None | N |
T/M | 0.1638 | likely_benign | 0.1987 | benign | -0.056 | Destabilizing | 0.968 | D | 0.733 | prob.delet. | None | None | None | None | N |
T/N | 0.2599 | likely_benign | 0.3652 | ambiguous | -0.504 | Destabilizing | 0.001 | N | 0.413 | neutral | N | 0.513078531 | None | None | N |
T/P | 0.5649 | likely_pathogenic | 0.6638 | pathogenic | -0.38 | Destabilizing | 0.667 | D | 0.755 | deleterious | D | 0.596021517 | None | None | N |
T/Q | 0.392 | ambiguous | 0.4727 | ambiguous | -0.617 | Destabilizing | 0.567 | D | 0.769 | deleterious | None | None | None | None | N |
T/R | 0.3766 | ambiguous | 0.4652 | ambiguous | -0.371 | Destabilizing | 0.567 | D | 0.751 | deleterious | None | None | None | None | N |
T/S | 0.2023 | likely_benign | 0.2648 | benign | -0.838 | Destabilizing | 0.011 | N | 0.275 | neutral | N | 0.456707587 | None | None | N |
T/V | 0.2491 | likely_benign | 0.2962 | benign | -0.38 | Destabilizing | 0.431 | N | 0.669 | neutral | None | None | None | None | N |
T/W | 0.8456 | likely_pathogenic | 0.8929 | pathogenic | -0.827 | Destabilizing | 0.968 | D | 0.776 | deleterious | None | None | None | None | N |
T/Y | 0.5335 | ambiguous | 0.6181 | pathogenic | -0.583 | Destabilizing | 0.89 | D | 0.791 | deleterious | 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.