Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7182 | 21769;21770;21771 | chr2:178723556;178723555;178723554 | chr2:179588283;179588282;179588281 |
| N2AB | 6865 | 20818;20819;20820 | chr2:178723556;178723555;178723554 | chr2:179588283;179588282;179588281 |
| N2A | 5938 | 18037;18038;18039 | chr2:178723556;178723555;178723554 | chr2:179588283;179588282;179588281 |
| 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 |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.008 | N | 0.206 | 0.056 | 0.223146558224 | gnomAD-4.0.0 | 6.84392E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9962E-07 | 0 | 0 |
| R/Q | rs200447686  |
0.088 | None | N | 0.115 | 0.068 | None | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 1.2409E-04 | 5.67E-05 | None | 0 | 1.02796E-04 | None | 0 | None | 0 | 5.47E-05 | 1.40805E-04 |
| R/Q | rs200447686 |
0.088 | None | N | 0.115 | 0.068 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.20703E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.79386E-04 |
| R/Q | rs200447686 |
0.088 | None | N | 0.115 | 0.068 | None | gnomAD-4.0.0 | 7.00453E-05 | None | None | None | None | N | None | 1.20205E-04 | 1.1676E-04 | None | 0 | 4.4615E-05 | None | 0 | 4.93259E-04 | 7.37552E-05 | 0 | 8.01077E-05 |
| R/W | rs727504736 |
-0.319 | 0.941 | N | 0.322 | 0.14 | None | gnomAD-2.1.1 | 9.26E-05 | None | None | None | None | N | None | 6.47E-05 | 5.23073E-04 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 2.67E-05 | 0 |
| R/W | rs727504736 |
-0.319 | 0.941 | N | 0.322 | 0.14 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/W | rs727504736 |
-0.319 | 0.941 | N | 0.322 | 0.14 | None | gnomAD-4.0.0 | 4.27725E-05 | None | None | None | None | N | None | 2.67151E-05 | 4.17056E-04 | None | 0 | 2.23085E-05 | None | 0 | 0 | 3.30631E-05 | 0 | 3.2039E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1147 | likely_benign | 0.1149 | benign | 0.086 | Stabilizing | 0.002 | N | 0.169 | neutral | None | None | None | None | N |
| R/C | 0.1304 | likely_benign | 0.1257 | benign | -0.002 | Destabilizing | 0.245 | N | 0.341 | neutral | None | None | None | None | N |
| R/D | 0.2074 | likely_benign | 0.1984 | benign | -0.051 | Destabilizing | None | N | 0.117 | neutral | None | None | None | None | N |
| R/E | 0.1411 | likely_benign | 0.1394 | benign | 0.015 | Stabilizing | None | N | 0.084 | neutral | None | None | None | None | N |
| R/F | 0.2405 | likely_benign | 0.2137 | benign | -0.114 | Destabilizing | 0.044 | N | 0.427 | neutral | None | None | None | None | N |
| R/G | 0.0759 | likely_benign | 0.0763 | benign | -0.114 | Destabilizing | 0.008 | N | 0.206 | neutral | N | 0.493289569 | None | None | N |
| R/H | 0.0754 | likely_benign | 0.073 | benign | -0.653 | Destabilizing | 0.138 | N | 0.271 | neutral | None | None | None | None | N |
| R/I | 0.1169 | likely_benign | 0.118 | benign | 0.577 | Stabilizing | None | N | 0.217 | neutral | None | None | None | None | N |
| R/K | 0.0745 | likely_benign | 0.0831 | benign | 0.065 | Stabilizing | None | N | 0.067 | neutral | None | None | None | None | N |
| R/L | 0.1118 | likely_benign | 0.1068 | benign | 0.577 | Stabilizing | 0.008 | N | 0.221 | neutral | N | 0.472171117 | None | None | N |
| R/M | 0.1178 | likely_benign | 0.1283 | benign | 0.128 | Stabilizing | 0.138 | N | 0.317 | neutral | None | None | None | None | N |
| R/N | 0.1559 | likely_benign | 0.152 | benign | 0.312 | Stabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| R/P | 0.2961 | likely_benign | 0.2731 | benign | 0.434 | Stabilizing | 0.068 | N | 0.345 | neutral | N | 0.468816982 | None | None | N |
| R/Q | 0.0703 | likely_benign | 0.071 | benign | 0.216 | Stabilizing | None | N | 0.115 | neutral | N | 0.468563492 | None | None | N |
| R/S | 0.1137 | likely_benign | 0.1115 | benign | -0.011 | Destabilizing | None | N | 0.099 | neutral | None | None | None | None | N |
| R/T | 0.0739 | likely_benign | 0.0804 | benign | 0.19 | Stabilizing | None | N | 0.097 | neutral | None | None | None | None | N |
| R/V | 0.1534 | likely_benign | 0.1551 | benign | 0.434 | Stabilizing | 0.004 | N | 0.264 | neutral | None | None | None | None | N |
| R/W | 0.1064 | likely_benign | 0.0916 | benign | -0.184 | Destabilizing | 0.941 | D | 0.322 | neutral | N | 0.494176165 | None | None | N |
| R/Y | 0.1741 | likely_benign | 0.1536 | benign | 0.23 | Stabilizing | 0.085 | N | 0.395 | 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.