Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9498 | 28717;28718;28719 | chr2:178709827;178709826;178709825 | chr2:179574554;179574553;179574552 |
N2AB | 9181 | 27766;27767;27768 | chr2:178709827;178709826;178709825 | chr2:179574554;179574553;179574552 |
N2A | 8254 | 24985;24986;24987 | chr2:178709827;178709826;178709825 | chr2:179574554;179574553;179574552 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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/G | rs757471312 | -1.169 | 0.024 | None | 0.31 | 0.171 | 0.471620082127 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29282E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
R/G | rs757471312 | -1.169 | 0.024 | None | 0.31 | 0.171 | 0.471620082127 | gnomAD-4.0.0 | 3.18919E-06 | None | None | None | None | N | None | 1.13507E-04 | 0 | None | 0 | 0 | None | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R/A | 0.2911 | likely_benign | 0.486 | ambiguous | -0.099 | Destabilizing | 0.007 | N | 0.255 | neutral | None | None | None | None | N |
R/C | 0.2892 | likely_benign | 0.5241 | ambiguous | -0.334 | Destabilizing | 0.864 | D | 0.307 | neutral | None | None | None | None | N |
R/D | 0.5934 | likely_pathogenic | 0.7587 | pathogenic | -0.067 | Destabilizing | 0.031 | N | 0.336 | neutral | None | None | None | None | N |
R/E | 0.3142 | likely_benign | 0.4039 | ambiguous | 0.027 | Stabilizing | 0.007 | N | 0.134 | neutral | None | None | None | None | N |
R/F | 0.509 | ambiguous | 0.7589 | pathogenic | -0.258 | Destabilizing | 0.628 | D | 0.34 | neutral | None | None | None | None | N |
R/G | 0.2057 | likely_benign | 0.2156 | benign | -0.315 | Destabilizing | 0.024 | N | 0.31 | neutral | None | None | None | None | N |
R/H | 0.1346 | likely_benign | 0.2447 | benign | -0.889 | Destabilizing | 0.356 | N | 0.268 | neutral | None | None | None | None | N |
R/I | 0.2448 | likely_benign | 0.439 | ambiguous | 0.446 | Stabilizing | 0.106 | N | 0.399 | neutral | None | None | None | None | N |
R/K | 0.0581 | likely_benign | 0.0509 | benign | -0.115 | Destabilizing | None | N | 0.087 | neutral | None | None | None | None | N |
R/L | 0.1921 | likely_benign | 0.358 | ambiguous | 0.446 | Stabilizing | 0.031 | N | 0.31 | neutral | None | None | None | None | N |
R/M | 0.1978 | likely_benign | 0.3433 | ambiguous | -0.125 | Destabilizing | 0.628 | D | 0.322 | neutral | None | None | None | None | N |
R/N | 0.3893 | ambiguous | 0.5655 | pathogenic | -0.04 | Destabilizing | 0.031 | N | 0.174 | neutral | None | None | None | None | N |
R/P | 0.2332 | likely_benign | 0.3717 | ambiguous | 0.285 | Stabilizing | 0.136 | N | 0.357 | neutral | None | None | None | None | N |
R/Q | 0.1058 | likely_benign | 0.1586 | benign | -0.054 | Destabilizing | 0.016 | N | 0.179 | neutral | None | None | None | None | N |
R/S | 0.3554 | ambiguous | 0.5724 | pathogenic | -0.396 | Destabilizing | 0.012 | N | 0.315 | neutral | None | None | None | None | N |
R/T | 0.1926 | likely_benign | 0.3455 | ambiguous | -0.148 | Destabilizing | 0.024 | N | 0.307 | neutral | None | None | None | None | N |
R/V | 0.2901 | likely_benign | 0.4781 | ambiguous | 0.285 | Stabilizing | 0.072 | N | 0.381 | neutral | None | None | None | None | N |
R/W | 0.2517 | likely_benign | 0.4598 | ambiguous | -0.311 | Destabilizing | 0.864 | D | 0.31 | neutral | None | None | None | None | N |
R/Y | 0.3851 | ambiguous | 0.6148 | pathogenic | 0.093 | Stabilizing | 0.356 | N | 0.363 | 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.