Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5026 | 15301;15302;15303 | chr2:178734848;178734847;178734846 | chr2:179599575;179599574;179599573 |
N2AB | 4709 | 14350;14351;14352 | chr2:178734848;178734847;178734846 | chr2:179599575;179599574;179599573 |
N2A | 3782 | 11569;11570;11571 | chr2:178734848;178734847;178734846 | chr2:179599575;179599574;179599573 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/K | None | None | 0.012 | N | 0.241 | 0.078 | 0.0716867268079 | 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 | 0.1346 | likely_benign | 0.114 | benign | -0.143 | Destabilizing | 0.016 | N | 0.311 | neutral | None | None | None | None | N |
N/C | 0.2992 | likely_benign | 0.2533 | benign | 0.096 | Stabilizing | 0.676 | D | 0.294 | neutral | None | None | None | None | N |
N/D | 0.0743 | likely_benign | 0.0702 | benign | -0.029 | Destabilizing | None | N | 0.126 | neutral | N | 0.412856859 | None | None | N |
N/E | 0.2079 | likely_benign | 0.1733 | benign | -0.102 | Destabilizing | None | N | 0.138 | neutral | None | None | None | None | N |
N/F | 0.5054 | ambiguous | 0.4293 | ambiguous | -0.783 | Destabilizing | 0.356 | N | 0.297 | neutral | None | None | None | None | N |
N/G | 0.1693 | likely_benign | 0.1474 | benign | -0.202 | Destabilizing | None | N | 0.137 | neutral | None | None | None | None | N |
N/H | 0.1027 | likely_benign | 0.0921 | benign | -0.255 | Destabilizing | 0.295 | N | 0.274 | neutral | N | 0.448886066 | None | None | N |
N/I | 0.2115 | likely_benign | 0.1737 | benign | -0.084 | Destabilizing | 0.171 | N | 0.327 | neutral | N | 0.453338578 | None | None | N |
N/K | 0.1736 | likely_benign | 0.149 | benign | 0.074 | Stabilizing | 0.012 | N | 0.241 | neutral | N | 0.44491048 | None | None | N |
N/L | 0.2259 | likely_benign | 0.1864 | benign | -0.084 | Destabilizing | 0.072 | N | 0.351 | neutral | None | None | None | None | N |
N/M | 0.3211 | likely_benign | 0.2718 | benign | 0.063 | Stabilizing | 0.864 | D | 0.279 | neutral | None | None | None | None | N |
N/P | 0.2343 | likely_benign | 0.1773 | benign | -0.083 | Destabilizing | 0.214 | N | 0.345 | neutral | None | None | None | None | N |
N/Q | 0.2279 | likely_benign | 0.1858 | benign | -0.303 | Destabilizing | 0.072 | N | 0.271 | neutral | None | None | None | None | N |
N/R | 0.2005 | likely_benign | 0.1772 | benign | 0.136 | Stabilizing | 0.072 | N | 0.265 | neutral | None | None | None | None | N |
N/S | 0.0691 | likely_benign | 0.0632 | benign | -0.068 | Destabilizing | None | N | 0.165 | neutral | N | 0.408474126 | None | None | N |
N/T | 0.1228 | likely_benign | 0.1016 | benign | -0.042 | Destabilizing | 0.029 | N | 0.243 | neutral | N | 0.449076524 | None | None | N |
N/V | 0.2032 | likely_benign | 0.1677 | benign | -0.083 | Destabilizing | 0.072 | N | 0.345 | neutral | None | None | None | None | N |
N/W | 0.7116 | likely_pathogenic | 0.6483 | pathogenic | -0.929 | Destabilizing | 0.864 | D | 0.349 | neutral | None | None | None | None | N |
N/Y | 0.1804 | likely_benign | 0.1601 | benign | -0.608 | Destabilizing | 0.295 | N | 0.284 | neutral | N | 0.452414331 | 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.