Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 3430 | 10513;10514;10515 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
N2AB | 3430 | 10513;10514;10515 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
N2A | 3430 | 10513;10514;10515 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
N2B | 3384 | 10375;10376;10377 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
Novex-1 | 3384 | 10375;10376;10377 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
Novex-2 | 3384 | 10375;10376;10377 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
Novex-3 | 3430 | 10513;10514;10515 | chr2:178758999;178758998;178758997 | chr2:179623726;179623725;179623724 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/H | rs376029089 | -0.97 | 0.295 | N | 0.469 | 0.11 | None | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.4E-05 | 0 |
N/H | rs376029089 | -0.97 | 0.295 | N | 0.469 | 0.11 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
N/H | rs376029089 | -0.97 | 0.295 | N | 0.469 | 0.11 | None | gnomAD-4.0.0 | 4.0894E-05 | None | None | None | None | N | None | 0 | 1.6665E-05 | None | 0 | 0 | None | 0 | 0 | 5.50875E-05 | 0 | 0 |
N/S | None | None | None | N | 0.129 | 0.107 | 0.0138822411134 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.1155 | likely_benign | 0.1226 | benign | -1.211 | Destabilizing | 0.007 | N | 0.353 | neutral | None | None | None | None | N |
N/C | 0.1842 | likely_benign | 0.1602 | benign | -0.201 | Destabilizing | 0.356 | N | 0.556 | neutral | None | None | None | None | N |
N/D | 0.1267 | likely_benign | 0.1346 | benign | -0.342 | Destabilizing | 0.024 | N | 0.331 | neutral | N | 0.495564818 | None | None | N |
N/E | 0.2381 | likely_benign | 0.2496 | benign | -0.309 | Destabilizing | 0.016 | N | 0.327 | neutral | None | None | None | None | N |
N/F | 0.2606 | likely_benign | 0.2685 | benign | -1.358 | Destabilizing | 0.072 | N | 0.612 | neutral | None | None | None | None | N |
N/G | 0.188 | likely_benign | 0.2017 | benign | -1.448 | Destabilizing | 0.016 | N | 0.309 | neutral | None | None | None | None | N |
N/H | 0.0688 | likely_benign | 0.0639 | benign | -1.257 | Destabilizing | 0.295 | N | 0.469 | neutral | N | 0.503106833 | None | None | N |
N/I | 0.1116 | likely_benign | 0.1102 | benign | -0.634 | Destabilizing | None | N | 0.357 | neutral | N | 0.499029604 | None | None | N |
N/K | 0.1293 | likely_benign | 0.1334 | benign | -0.119 | Destabilizing | 0.012 | N | 0.325 | neutral | N | 0.447516858 | None | None | N |
N/L | 0.1232 | likely_benign | 0.1314 | benign | -0.634 | Destabilizing | None | N | 0.349 | neutral | None | None | None | None | N |
N/M | 0.1922 | likely_benign | 0.1913 | benign | 0.036 | Stabilizing | 0.214 | N | 0.56 | neutral | None | None | None | None | N |
N/P | 0.469 | ambiguous | 0.5592 | ambiguous | -0.802 | Destabilizing | 0.136 | N | 0.601 | neutral | None | None | None | None | N |
N/Q | 0.1813 | likely_benign | 0.1847 | benign | -0.843 | Destabilizing | 0.072 | N | 0.445 | neutral | None | None | None | None | N |
N/R | 0.1324 | likely_benign | 0.1265 | benign | 0.031 | Stabilizing | 0.072 | N | 0.359 | neutral | None | None | None | None | N |
N/S | 0.0592 | likely_benign | 0.0613 | benign | -0.741 | Destabilizing | None | N | 0.129 | neutral | N | 0.446074531 | None | None | N |
N/T | 0.0668 | likely_benign | 0.0675 | benign | -0.529 | Destabilizing | None | N | 0.107 | neutral | N | 0.406252714 | None | None | N |
N/V | 0.1161 | likely_benign | 0.1107 | benign | -0.802 | Destabilizing | 0.007 | N | 0.399 | neutral | None | None | None | None | N |
N/W | 0.5211 | ambiguous | 0.5553 | ambiguous | -1.06 | Destabilizing | 0.864 | D | 0.562 | neutral | None | None | None | None | N |
N/Y | 0.1069 | likely_benign | 0.1078 | benign | -0.881 | Destabilizing | 0.295 | N | 0.593 | neutral | N | 0.495058765 | 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.