Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 33598 | 101017;101018;101019 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
N2AB | 31957 | 96094;96095;96096 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
N2A | 31030 | 93313;93314;93315 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
N2B | 24533 | 73822;73823;73824 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
Novex-1 | 24658 | 74197;74198;74199 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
Novex-2 | 24725 | 74398;74399;74400 | chr2:178535823;178535822;178535821 | chr2:179400550;179400549;179400548 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/I | rs1272515576 | 0.009 | 0.093 | N | 0.653 | 0.14 | 0.0401082797425 | gnomAD-2.1.1 | 4.27E-06 | None | None | None | None | N | None | 6.56E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
T/I | rs1272515576 | 0.009 | 0.093 | N | 0.653 | 0.14 | 0.0401082797425 | gnomAD-4.0.0 | 6.96121E-07 | None | None | None | None | N | None | 3.06542E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T/A | 0.0798 | likely_benign | 0.0785 | benign | -0.162 | Destabilizing | 0.001 | N | 0.409 | neutral | N | 0.419516955 | None | None | N |
T/C | 0.379 | ambiguous | 0.3304 | benign | -0.331 | Destabilizing | 0.802 | D | 0.647 | neutral | None | None | None | None | N |
T/D | 0.2521 | likely_benign | 0.2166 | benign | 0.327 | Stabilizing | None | N | 0.406 | neutral | None | None | None | None | N |
T/E | 0.2634 | likely_benign | 0.2264 | benign | 0.248 | Stabilizing | None | N | 0.361 | neutral | None | None | None | None | N |
T/F | 0.2645 | likely_benign | 0.2161 | benign | -0.785 | Destabilizing | 0.559 | D | 0.701 | prob.neutral | None | None | None | None | N |
T/G | 0.1811 | likely_benign | 0.172 | benign | -0.247 | Destabilizing | 0.024 | N | 0.513 | neutral | None | None | None | None | N |
T/H | 0.1258 | likely_benign | 0.1246 | benign | -0.454 | Destabilizing | None | N | 0.428 | neutral | None | None | None | None | N |
T/I | 0.2052 | likely_benign | 0.162 | benign | -0.064 | Destabilizing | 0.093 | N | 0.653 | neutral | N | 0.372683013 | None | None | N |
T/K | 0.2709 | likely_benign | 0.2248 | benign | -0.183 | Destabilizing | 0.014 | N | 0.534 | neutral | None | None | None | None | N |
T/L | 0.1331 | likely_benign | 0.1124 | benign | -0.064 | Destabilizing | 0.027 | N | 0.553 | neutral | None | None | None | None | N |
T/M | 0.1072 | likely_benign | 0.1038 | benign | -0.115 | Destabilizing | 0.591 | D | 0.663 | neutral | None | None | None | None | N |
T/N | 0.0491 | likely_benign | 0.0535 | benign | -0.044 | Destabilizing | None | N | 0.183 | neutral | N | 0.401624628 | None | None | N |
T/P | 0.1388 | likely_benign | 0.1094 | benign | -0.07 | Destabilizing | 0.021 | N | 0.596 | neutral | N | 0.438622791 | None | None | N |
T/Q | 0.1891 | likely_benign | 0.1752 | benign | -0.21 | Destabilizing | 0.03 | N | 0.581 | neutral | None | None | None | None | N |
T/R | 0.2654 | likely_benign | 0.2211 | benign | 0.042 | Stabilizing | 0.151 | N | 0.581 | neutral | None | None | None | None | N |
T/S | 0.0813 | likely_benign | 0.0821 | benign | -0.236 | Destabilizing | None | N | 0.391 | neutral | N | 0.438449432 | None | None | N |
T/V | 0.1637 | likely_benign | 0.1417 | benign | -0.07 | Destabilizing | 0.088 | N | 0.498 | neutral | None | None | None | None | N |
T/W | 0.6285 | likely_pathogenic | 0.5666 | pathogenic | -0.864 | Destabilizing | 0.936 | D | 0.673 | neutral | None | None | None | None | N |
T/Y | 0.219 | likely_benign | 0.1754 | benign | -0.53 | Destabilizing | 0.151 | N | 0.671 | 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.