Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 23650 | 71173;71174;71175 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
N2AB | 22009 | 66250;66251;66252 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
N2A | 21082 | 63469;63470;63471 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
N2B | 14585 | 43978;43979;43980 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
Novex-1 | 14710 | 44353;44354;44355 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
Novex-2 | 14777 | 44554;44555;44556 | chr2:178575184;178575183;178575182 | chr2:179439911;179439910;179439909 |
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 | rs377185608 | 0.308 | 0.027 | N | 0.336 | 0.061 | 0.0986583533028 | gnomAD-2.1.1 | 2.52E-05 | None | None | None | None | N | None | 2.07745E-04 | 2.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.88E-06 | 0 |
N/K | rs377185608 | 0.308 | 0.027 | N | 0.336 | 0.061 | 0.0986583533028 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.44851E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
N/K | rs377185608 | 0.308 | 0.027 | N | 0.336 | 0.061 | 0.0986583533028 | gnomAD-4.0.0 | 1.36425E-05 | None | None | None | None | N | None | 2.00326E-04 | 3.33979E-05 | None | 0 | 0 | None | 0 | 0 | 2.54377E-06 | 0 | 3.20461E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.1879 | likely_benign | 0.2089 | benign | -0.452 | Destabilizing | 0.149 | N | 0.354 | neutral | None | None | None | None | N |
N/C | 0.228 | likely_benign | 0.244 | benign | 0.468 | Stabilizing | 0.935 | D | 0.481 | neutral | None | None | None | None | N |
N/D | 0.1168 | likely_benign | 0.1288 | benign | -0.443 | Destabilizing | 0.117 | N | 0.367 | neutral | N | 0.445124689 | None | None | N |
N/E | 0.4143 | ambiguous | 0.4573 | ambiguous | -0.45 | Destabilizing | 0.081 | N | 0.325 | neutral | None | None | None | None | N |
N/F | 0.4907 | ambiguous | 0.5316 | ambiguous | -0.677 | Destabilizing | 0.38 | N | 0.439 | neutral | None | None | None | None | N |
N/G | 0.2525 | likely_benign | 0.2831 | benign | -0.682 | Destabilizing | 0.067 | N | 0.321 | neutral | None | None | None | None | N |
N/H | 0.0949 | likely_benign | 0.0949 | benign | -0.758 | Destabilizing | 0.001 | N | 0.256 | neutral | N | 0.501423475 | None | None | N |
N/I | 0.207 | likely_benign | 0.2418 | benign | 0.082 | Stabilizing | 0.484 | N | 0.439 | neutral | N | 0.470177849 | None | None | N |
N/K | 0.3052 | likely_benign | 0.3263 | benign | -0.043 | Destabilizing | 0.027 | N | 0.336 | neutral | N | 0.441759096 | None | None | N |
N/L | 0.2341 | likely_benign | 0.2518 | benign | 0.082 | Stabilizing | 0.149 | N | 0.389 | neutral | None | None | None | None | N |
N/M | 0.3191 | likely_benign | 0.3451 | ambiguous | 0.718 | Stabilizing | 0.935 | D | 0.402 | neutral | None | None | None | None | N |
N/P | 0.3356 | likely_benign | 0.3461 | ambiguous | -0.068 | Destabilizing | 0.555 | D | 0.411 | neutral | None | None | None | None | N |
N/Q | 0.3055 | likely_benign | 0.3277 | benign | -0.581 | Destabilizing | 0.38 | N | 0.331 | neutral | None | None | None | None | N |
N/R | 0.3049 | likely_benign | 0.3355 | benign | 0.053 | Stabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
N/S | 0.0834 | likely_benign | 0.0862 | benign | -0.297 | Destabilizing | 0.117 | N | 0.375 | neutral | N | 0.409779964 | None | None | N |
N/T | 0.1075 | likely_benign | 0.1154 | benign | -0.156 | Destabilizing | 0.211 | N | 0.305 | neutral | N | 0.416417935 | None | None | N |
N/V | 0.1913 | likely_benign | 0.2223 | benign | -0.068 | Destabilizing | 0.555 | D | 0.415 | neutral | None | None | None | None | N |
N/W | 0.7853 | likely_pathogenic | 0.8163 | pathogenic | -0.599 | Destabilizing | 0.935 | D | 0.573 | neutral | None | None | None | None | N |
N/Y | 0.1852 | likely_benign | 0.2061 | benign | -0.354 | Destabilizing | 0.188 | N | 0.411 | neutral | N | 0.507792087 | 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.