Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30064 | 90415;90416;90417 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
N2AB | 28423 | 85492;85493;85494 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
N2A | 27496 | 82711;82712;82713 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
N2B | 20999 | 63220;63221;63222 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
Novex-1 | 21124 | 63595;63596;63597 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
Novex-2 | 21191 | 63796;63797;63798 | chr2:178552710;178552709;178552708 | chr2:179417437;179417436;179417435 |
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/Q | rs866186866 | -0.807 | 0.22 | N | 0.528 | 0.213 | 0.239305524855 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
E/Q | rs866186866 | -0.807 | 0.22 | N | 0.528 | 0.213 | 0.239305524855 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88246E-05 | 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 | 0.1577 | likely_benign | 0.1427 | benign | -0.858 | Destabilizing | 0.22 | N | 0.612 | neutral | N | 0.452621956 | None | None | N |
E/C | 0.7932 | likely_pathogenic | 0.7723 | pathogenic | -0.428 | Destabilizing | 0.968 | D | 0.799 | deleterious | None | None | None | None | N |
E/D | 0.0628 | likely_benign | 0.0665 | benign | -0.995 | Destabilizing | None | N | 0.144 | neutral | N | 0.430977247 | None | None | N |
E/F | 0.8425 | likely_pathogenic | 0.8051 | pathogenic | -0.059 | Destabilizing | 0.89 | D | 0.798 | deleterious | None | None | None | None | N |
E/G | 0.1184 | likely_benign | 0.1154 | benign | -1.268 | Destabilizing | 0.22 | N | 0.673 | neutral | N | 0.318032957 | None | None | N |
E/H | 0.4113 | ambiguous | 0.3802 | ambiguous | -0.331 | Destabilizing | 0.726 | D | 0.507 | neutral | None | None | None | None | N |
E/I | 0.7123 | likely_pathogenic | 0.6495 | pathogenic | 0.275 | Stabilizing | 0.726 | D | 0.799 | deleterious | None | None | None | None | N |
E/K | 0.3395 | likely_benign | 0.294 | benign | -0.494 | Destabilizing | 0.22 | N | 0.515 | neutral | N | 0.445039836 | None | None | N |
E/L | 0.6575 | likely_pathogenic | 0.6006 | pathogenic | 0.275 | Stabilizing | 0.567 | D | 0.764 | deleterious | None | None | None | None | N |
E/M | 0.6556 | likely_pathogenic | 0.6076 | pathogenic | 0.725 | Stabilizing | 0.968 | D | 0.745 | deleterious | None | None | None | None | N |
E/N | 0.1518 | likely_benign | 0.1513 | benign | -1.082 | Destabilizing | 0.157 | N | 0.509 | neutral | None | None | None | None | N |
E/P | 0.97 | likely_pathogenic | 0.9621 | pathogenic | -0.081 | Destabilizing | 0.726 | D | 0.689 | prob.neutral | None | None | None | None | N |
E/Q | 0.1814 | likely_benign | 0.1636 | benign | -0.905 | Destabilizing | 0.22 | N | 0.528 | neutral | N | 0.469764922 | None | None | N |
E/R | 0.4645 | ambiguous | 0.4203 | ambiguous | -0.223 | Destabilizing | 0.567 | D | 0.518 | neutral | None | None | None | None | N |
E/S | 0.122 | likely_benign | 0.1221 | benign | -1.46 | Destabilizing | 0.157 | N | 0.508 | neutral | None | None | None | None | N |
E/T | 0.3092 | likely_benign | 0.2699 | benign | -1.103 | Destabilizing | 0.272 | N | 0.649 | neutral | None | None | None | None | N |
E/V | 0.5012 | ambiguous | 0.4382 | ambiguous | -0.081 | Destabilizing | 0.667 | D | 0.687 | prob.neutral | N | 0.466431261 | None | None | N |
E/W | 0.9291 | likely_pathogenic | 0.9103 | pathogenic | 0.265 | Stabilizing | 0.968 | D | 0.754 | deleterious | None | None | None | None | N |
E/Y | 0.6286 | likely_pathogenic | 0.5851 | pathogenic | 0.237 | Stabilizing | 0.89 | D | 0.762 | 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.