Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 10057 | 30394;30395;30396 | chr2:178704201;178704200;178704199 | chr2:179568928;179568927;179568926 |
N2AB | 9740 | 29443;29444;29445 | chr2:178704201;178704200;178704199 | chr2:179568928;179568927;179568926 |
N2A | 8813 | 26662;26663;26664 | chr2:178704201;178704200;178704199 | chr2:179568928;179568927;179568926 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/P | None | None | 0.106 | None | 0.523 | 0.23 | 0.202086224978 | gnomAD-4.0.0 | 4.10489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.3964E-06 | 0 | 0 |
Q/R | rs2075483683 | None | None | None | 0.16 | 0.102 | 0.0611884634855 | gnomAD-4.0.0 | 6.84148E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.994E-07 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/A | 0.2092 | likely_benign | 0.2659 | benign | -0.63 | Destabilizing | 0.016 | N | 0.388 | neutral | None | None | None | None | N |
Q/C | 0.5838 | likely_pathogenic | 0.5972 | pathogenic | -0.03 | Destabilizing | 0.864 | D | 0.477 | neutral | None | None | None | None | N |
Q/D | 0.4374 | ambiguous | 0.5601 | ambiguous | -0.805 | Destabilizing | 0.016 | N | 0.439 | neutral | None | None | None | None | N |
Q/E | 0.0976 | likely_benign | 0.125 | benign | -0.74 | Destabilizing | None | N | 0.179 | neutral | None | None | None | None | N |
Q/F | 0.5475 | ambiguous | 0.6119 | pathogenic | -0.573 | Destabilizing | 0.356 | N | 0.499 | neutral | None | None | None | None | N |
Q/G | 0.311 | likely_benign | 0.4194 | ambiguous | -0.945 | Destabilizing | 0.031 | N | 0.476 | neutral | None | None | None | None | N |
Q/H | 0.1828 | likely_benign | 0.2168 | benign | -0.964 | Destabilizing | None | N | 0.229 | neutral | None | None | None | None | N |
Q/I | 0.249 | likely_benign | 0.2971 | benign | 0.156 | Stabilizing | 0.356 | N | 0.54 | neutral | None | None | None | None | N |
Q/K | 0.0697 | likely_benign | 0.0809 | benign | -0.235 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | N |
Q/L | 0.1104 | likely_benign | 0.1368 | benign | 0.156 | Stabilizing | 0.055 | N | 0.509 | neutral | None | None | None | None | N |
Q/M | 0.281 | likely_benign | 0.3441 | ambiguous | 0.723 | Stabilizing | 0.628 | D | 0.493 | neutral | None | None | None | None | N |
Q/N | 0.2712 | likely_benign | 0.3302 | benign | -0.784 | Destabilizing | 0.038 | N | 0.434 | neutral | None | None | None | None | N |
Q/P | 0.2236 | likely_benign | 0.3115 | benign | -0.076 | Destabilizing | 0.106 | N | 0.523 | neutral | None | None | None | None | N |
Q/R | 0.0771 | likely_benign | 0.076 | benign | -0.138 | Destabilizing | None | N | 0.16 | neutral | None | None | None | None | N |
Q/S | 0.2505 | likely_benign | 0.3147 | benign | -0.839 | Destabilizing | 0.016 | N | 0.441 | neutral | None | None | None | None | N |
Q/T | 0.1615 | likely_benign | 0.1928 | benign | -0.586 | Destabilizing | 0.072 | N | 0.505 | neutral | None | None | None | None | N |
Q/V | 0.1977 | likely_benign | 0.2216 | benign | -0.076 | Destabilizing | 0.072 | N | 0.508 | neutral | None | None | None | None | N |
Q/W | 0.3653 | ambiguous | 0.413 | ambiguous | -0.459 | Destabilizing | 0.864 | D | 0.492 | neutral | None | None | None | None | N |
Q/Y | 0.3764 | ambiguous | 0.4399 | ambiguous | -0.198 | Destabilizing | 0.12 | N | 0.565 | 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.