Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 18211 | 54856;54857;54858 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
N2AB | 16570 | 49933;49934;49935 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
N2A | 15643 | 47152;47153;47154 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
N2B | 9146 | 27661;27662;27663 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
Novex-1 | 9271 | 28036;28037;28038 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
Novex-2 | 9338 | 28237;28238;28239 | chr2:178604056;178604055;178604054 | chr2:179468783;179468782;179468781 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/L | rs764772164 | -0.051 | None | N | 0.215 | 0.088 | 0.222439326576 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
P/L | rs764772164 | -0.051 | None | N | 0.215 | 0.088 | 0.222439326576 | gnomAD-4.0.0 | 1.86004E-06 | None | None | None | None | N | None | 0 | 1.66761E-05 | None | 0 | 0 | None | 0 | 0 | 1.69609E-06 | 0 | 0 |
P/R | rs764772164 | None | 0.001 | N | 0.211 | 0.065 | 0.126345400529 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
P/R | rs764772164 | None | 0.001 | N | 0.211 | 0.065 | 0.126345400529 | gnomAD-4.0.0 | 1.67415E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20491E-05 | 0 | 1.60231E-05 |
P/S | rs727504192 | None | None | N | 0.161 | 0.067 | 0.0297737177859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
P/S | rs727504192 | None | None | N | 0.161 | 0.067 | 0.0297737177859 | gnomAD-4.0.0 | 6.58085E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
P/T | rs727504192 | -0.331 | None | N | 0.163 | 0.059 | None | gnomAD-2.1.1 | 7.86E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.64317E-04 | 0 |
P/T | rs727504192 | -0.331 | None | N | 0.163 | 0.059 | None | gnomAD-3.1.2 | 8.56E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76606E-04 | 0 | 0 |
P/T | rs727504192 | -0.331 | None | N | 0.163 | 0.059 | None | gnomAD-4.0.0 | 2.03997E-04 | None | None | None | None | N | None | 8.01775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.55258E-04 | 0 | 3.52485E-04 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.0642 | likely_benign | 0.0583 | benign | -0.438 | Destabilizing | None | N | 0.161 | neutral | N | 0.434305554 | None | None | N |
P/C | 0.3668 | ambiguous | 0.3186 | benign | -0.722 | Destabilizing | 0.018 | N | 0.527 | neutral | None | None | None | None | N |
P/D | 0.2736 | likely_benign | 0.2442 | benign | -0.309 | Destabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
P/E | 0.2148 | likely_benign | 0.1835 | benign | -0.402 | Destabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
P/F | 0.3657 | ambiguous | 0.2827 | benign | -0.643 | Destabilizing | 0.002 | N | 0.319 | neutral | None | None | None | None | N |
P/G | 0.1655 | likely_benign | 0.148 | benign | -0.548 | Destabilizing | None | N | 0.187 | neutral | None | None | None | None | N |
P/H | 0.1825 | likely_benign | 0.1451 | benign | 0.009 | Stabilizing | 0.006 | N | 0.511 | neutral | N | 0.463455025 | None | None | N |
P/I | 0.1649 | likely_benign | 0.135 | benign | -0.283 | Destabilizing | None | N | 0.216 | neutral | None | None | None | None | N |
P/K | 0.228 | likely_benign | 0.2041 | benign | -0.414 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | N |
P/L | 0.1059 | likely_benign | 0.09 | benign | -0.283 | Destabilizing | None | N | 0.215 | neutral | N | 0.4234352 | None | None | N |
P/M | 0.1974 | likely_benign | 0.1723 | benign | -0.579 | Destabilizing | 0.008 | N | 0.496 | neutral | None | None | None | None | N |
P/N | 0.1927 | likely_benign | 0.168 | benign | -0.235 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
P/Q | 0.1349 | likely_benign | 0.1144 | benign | -0.426 | Destabilizing | 0.001 | N | 0.211 | neutral | None | None | None | None | N |
P/R | 0.1816 | likely_benign | 0.1452 | benign | 0.063 | Stabilizing | 0.001 | N | 0.211 | neutral | N | 0.425667428 | None | None | N |
P/S | 0.0875 | likely_benign | 0.0779 | benign | -0.574 | Destabilizing | None | N | 0.161 | neutral | N | 0.369774073 | None | None | N |
P/T | 0.0761 | likely_benign | 0.0672 | benign | -0.568 | Destabilizing | None | N | 0.163 | neutral | N | 0.41950946 | None | None | N |
P/V | 0.1147 | likely_benign | 0.0991 | benign | -0.304 | Destabilizing | None | N | 0.162 | neutral | None | None | None | None | N |
P/W | 0.5311 | ambiguous | 0.4361 | ambiguous | -0.71 | Destabilizing | 0.116 | N | 0.462 | neutral | None | None | None | None | N |
P/Y | 0.3324 | likely_benign | 0.2645 | benign | -0.432 | Destabilizing | 0.003 | N | 0.373 | 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.