Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 16234 | 48925;48926;48927 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
N2AB | 14593 | 44002;44003;44004 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
N2A | 13666 | 41221;41222;41223 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
N2B | 7169 | 21730;21731;21732 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
Novex-1 | 7294 | 22105;22106;22107 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
Novex-2 | 7361 | 22306;22307;22308 | chr2:178614907;178614906;178614905 | chr2:179479634;179479633;179479632 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R/K | None | None | 0.122 | N | 0.262 | 0.11 | 0.261217442401 | gnomAD-4.0.0 | 6.96339E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.10845E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R/A | 0.484 | ambiguous | 0.3743 | ambiguous | -0.077 | Destabilizing | 0.97 | D | 0.579 | neutral | None | None | None | None | I |
R/C | 0.3232 | likely_benign | 0.2605 | benign | -0.127 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
R/D | 0.7695 | likely_pathogenic | 0.6568 | pathogenic | -0.122 | Destabilizing | 0.996 | D | 0.533 | neutral | None | None | None | None | I |
R/E | 0.5325 | ambiguous | 0.4161 | ambiguous | -0.072 | Destabilizing | 0.97 | D | 0.545 | neutral | None | None | None | None | I |
R/F | 0.6595 | likely_pathogenic | 0.5858 | pathogenic | -0.347 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | I |
R/G | 0.3519 | ambiguous | 0.2756 | benign | -0.258 | Destabilizing | 0.98 | D | 0.544 | neutral | N | 0.463763828 | None | None | I |
R/H | 0.1791 | likely_benign | 0.1497 | benign | -0.724 | Destabilizing | 0.999 | D | 0.491 | neutral | None | None | None | None | I |
R/I | 0.3662 | ambiguous | 0.2842 | benign | 0.361 | Stabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | I |
R/K | 0.1135 | likely_benign | 0.0999 | benign | -0.096 | Destabilizing | 0.122 | N | 0.262 | neutral | N | 0.415246149 | None | None | I |
R/L | 0.3479 | ambiguous | 0.2767 | benign | 0.361 | Stabilizing | 0.985 | D | 0.544 | neutral | None | None | None | None | I |
R/M | 0.4274 | ambiguous | 0.3398 | benign | 0.065 | Stabilizing | 1.0 | D | 0.529 | neutral | N | 0.483300358 | None | None | I |
R/N | 0.6813 | likely_pathogenic | 0.5697 | pathogenic | 0.214 | Stabilizing | 0.996 | D | 0.5 | neutral | None | None | None | None | I |
R/P | 0.6127 | likely_pathogenic | 0.511 | ambiguous | 0.235 | Stabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
R/Q | 0.1503 | likely_benign | 0.1247 | benign | 0.052 | Stabilizing | 0.991 | D | 0.514 | neutral | None | None | None | None | I |
R/S | 0.5625 | ambiguous | 0.4593 | ambiguous | -0.17 | Destabilizing | 0.961 | D | 0.589 | neutral | N | 0.453123974 | None | None | I |
R/T | 0.3723 | ambiguous | 0.2767 | benign | 0.005 | Stabilizing | 0.98 | D | 0.539 | neutral | N | 0.477135767 | None | None | I |
R/V | 0.4542 | ambiguous | 0.3624 | ambiguous | 0.235 | Stabilizing | 0.996 | D | 0.601 | neutral | None | None | None | None | I |
R/W | 0.273 | likely_benign | 0.2404 | benign | -0.385 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.548023518 | None | None | I |
R/Y | 0.5156 | ambiguous | 0.4546 | ambiguous | 0.023 | Stabilizing | 0.999 | D | 0.597 | 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.