Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 22540 | 67843;67844;67845 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
N2AB | 20899 | 62920;62921;62922 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
N2A | 19972 | 60139;60140;60141 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
N2B | 13475 | 40648;40649;40650 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
Novex-1 | 13600 | 41023;41024;41025 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
Novex-2 | 13667 | 41224;41225;41226 | chr2:178579579;178579578;178579577 | chr2:179444306;179444305;179444304 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/L | None | None | None | N | 0.186 | 0.063 | 0.277730125212 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.1357 | likely_benign | 0.155 | benign | -1.146 | Destabilizing | 0.026 | N | 0.553 | neutral | N | 0.506376296 | None | None | N |
V/C | 0.6553 | likely_pathogenic | 0.6798 | pathogenic | -0.866 | Destabilizing | 0.934 | D | 0.697 | prob.delet. | None | None | None | None | N |
V/D | 0.3253 | likely_benign | 0.3611 | ambiguous | -0.841 | Destabilizing | 0.552 | D | 0.739 | deleterious | None | None | None | None | N |
V/E | 0.2043 | likely_benign | 0.233 | benign | -0.881 | Destabilizing | 0.481 | N | 0.669 | prob.neutral | N | 0.507936521 | None | None | N |
V/F | 0.1317 | likely_benign | 0.1497 | benign | -0.921 | Destabilizing | 0.233 | N | 0.65 | prob.neutral | None | None | None | None | N |
V/G | 0.2382 | likely_benign | 0.2663 | benign | -1.408 | Destabilizing | 0.314 | N | 0.646 | neutral | N | 0.507936521 | None | None | N |
V/H | 0.4123 | ambiguous | 0.4506 | ambiguous | -0.87 | Destabilizing | 0.934 | D | 0.8 | deleterious | None | None | None | None | N |
V/I | 0.0733 | likely_benign | 0.076 | benign | -0.556 | Destabilizing | 0.034 | N | 0.55 | neutral | None | None | None | None | N |
V/K | 0.2129 | likely_benign | 0.2439 | benign | -1.025 | Destabilizing | 0.378 | N | 0.587 | neutral | None | None | None | None | N |
V/L | 0.1138 | likely_benign | 0.1307 | benign | -0.556 | Destabilizing | None | N | 0.186 | neutral | N | 0.405289369 | None | None | N |
V/M | 0.1007 | likely_benign | 0.1122 | benign | -0.485 | Destabilizing | 0.004 | N | 0.335 | neutral | N | 0.445983985 | None | None | N |
V/N | 0.2515 | likely_benign | 0.2669 | benign | -0.802 | Destabilizing | 0.552 | D | 0.76 | deleterious | None | None | None | None | N |
V/P | 0.5188 | ambiguous | 0.591 | pathogenic | -0.717 | Destabilizing | 0.789 | D | 0.717 | prob.delet. | None | None | None | None | N |
V/Q | 0.2161 | likely_benign | 0.2473 | benign | -1.0 | Destabilizing | 0.378 | N | 0.709 | prob.delet. | None | None | None | None | N |
V/R | 0.1871 | likely_benign | 0.217 | benign | -0.463 | Destabilizing | 0.378 | N | 0.74 | deleterious | None | None | None | None | N |
V/S | 0.1762 | likely_benign | 0.1881 | benign | -1.279 | Destabilizing | 0.378 | N | 0.582 | neutral | None | None | None | None | N |
V/T | 0.1083 | likely_benign | 0.1127 | benign | -1.212 | Destabilizing | 0.147 | N | 0.611 | neutral | None | None | None | None | N |
V/W | 0.6343 | likely_pathogenic | 0.7186 | pathogenic | -1.046 | Destabilizing | 0.934 | D | 0.813 | deleterious | None | None | None | None | N |
V/Y | 0.4367 | ambiguous | 0.4824 | ambiguous | -0.771 | Destabilizing | 0.552 | D | 0.648 | 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.