Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 26634 | 80125;80126;80127 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
N2AB | 24993 | 75202;75203;75204 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
N2A | 24066 | 72421;72422;72423 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
N2B | 17569 | 52930;52931;52932 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
Novex-1 | 17694 | 53305;53306;53307 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
Novex-2 | 17761 | 53506;53507;53508 | chr2:178566232;178566231;178566230 | chr2:179430959;179430958;179430957 |
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 | 0.939 | N | 0.294 | 0.421 | 0.29385284311 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
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 | 0.0835 | likely_benign | 0.0786 | benign | -0.599 | Destabilizing | 0.309 | N | 0.266 | neutral | N | 0.502634197 | None | None | N |
T/C | 0.3101 | likely_benign | 0.3032 | benign | -0.398 | Destabilizing | 0.996 | D | 0.337 | neutral | None | None | None | None | N |
T/D | 0.3405 | ambiguous | 0.3156 | benign | 0.177 | Stabilizing | 0.742 | D | 0.269 | neutral | None | None | None | None | N |
T/E | 0.3394 | likely_benign | 0.3137 | benign | 0.161 | Stabilizing | 0.742 | D | 0.273 | neutral | None | None | None | None | N |
T/F | 0.3008 | likely_benign | 0.2759 | benign | -0.88 | Destabilizing | 0.984 | D | 0.406 | neutral | None | None | None | None | N |
T/G | 0.1407 | likely_benign | 0.1368 | benign | -0.809 | Destabilizing | 0.59 | D | 0.324 | neutral | None | None | None | None | N |
T/H | 0.2326 | likely_benign | 0.2122 | benign | -0.992 | Destabilizing | 0.996 | D | 0.399 | neutral | None | None | None | None | N |
T/I | 0.2165 | likely_benign | 0.2015 | benign | -0.145 | Destabilizing | 0.939 | D | 0.294 | neutral | N | 0.459984528 | None | None | N |
T/K | 0.2117 | likely_benign | 0.1913 | benign | -0.471 | Destabilizing | 0.684 | D | 0.267 | neutral | N | 0.417708801 | None | None | N |
T/L | 0.1081 | likely_benign | 0.1038 | benign | -0.145 | Destabilizing | 0.742 | D | 0.289 | neutral | None | None | None | None | N |
T/M | 0.1149 | likely_benign | 0.1092 | benign | -0.105 | Destabilizing | 0.996 | D | 0.311 | neutral | None | None | None | None | N |
T/N | 0.109 | likely_benign | 0.1014 | benign | -0.379 | Destabilizing | 0.742 | D | 0.271 | neutral | None | None | None | None | N |
T/P | 0.0799 | likely_benign | 0.0769 | benign | -0.265 | Destabilizing | 0.001 | N | 0.184 | neutral | N | 0.404030214 | None | None | N |
T/Q | 0.2339 | likely_benign | 0.215 | benign | -0.481 | Destabilizing | 0.953 | D | 0.311 | neutral | None | None | None | None | N |
T/R | 0.1775 | likely_benign | 0.1603 | benign | -0.259 | Destabilizing | 0.884 | D | 0.296 | neutral | N | 0.4310621 | None | None | N |
T/S | 0.0799 | likely_benign | 0.0785 | benign | -0.641 | Destabilizing | 0.012 | N | 0.162 | neutral | N | 0.403024563 | None | None | N |
T/V | 0.1682 | likely_benign | 0.1565 | benign | -0.265 | Destabilizing | 0.742 | D | 0.251 | neutral | None | None | None | None | N |
T/W | 0.5593 | ambiguous | 0.5456 | ambiguous | -0.882 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | N |
T/Y | 0.3243 | likely_benign | 0.2956 | benign | -0.604 | Destabilizing | 0.984 | D | 0.404 | neutral | 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.