Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35348 | 106267;106268;106269 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| N2AB | 33707 | 101344;101345;101346 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| N2A | 32780 | 98563;98564;98565 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| N2B | 26283 | 79072;79073;79074 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| Novex-1 | 26408 | 79447;79448;79449 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| Novex-2 | 26475 | 79648;79649;79650 | chr2:178530573;178530572;178530571 | chr2:179395300;179395299;179395298 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1688670150  |
None | 0.794 | N | 0.265 | 0.268 | 0.314716216878 | gnomAD-4.0.0 | 3.18173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54508E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs145560044 |
-0.049 | 0.213 | N | 0.189 | 0.133 | 0.221019684889 | gnomAD-2.1.1 | 1.39125E-04 | None | None | None | None | N | None | 8.27E-05 | 1.04638E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs145560044 |
-0.049 | 0.213 | N | 0.189 | 0.133 | 0.221019684889 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.41E-05 | 5.23492E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs145560044 |
-0.049 | 0.213 | N | 0.189 | 0.133 | 0.221019684889 | gnomAD-4.0.0 | 4.58522E-05 | None | None | None | None | N | None | 2.6698E-05 | 1.09993E-03 | None | 0 | 0 | None | 0 | 0 | 5.08517E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3129 | likely_benign | 0.2988 | benign | -0.275 | Destabilizing | 0.129 | N | 0.287 | neutral | None | None | None | None | N |
| N/C | 0.3892 | ambiguous | 0.3684 | ambiguous | 0.438 | Stabilizing | 0.951 | D | 0.297 | neutral | None | None | None | None | N |
| N/D | 0.1277 | likely_benign | 0.1145 | benign | 0.049 | Stabilizing | 0.001 | N | 0.059 | neutral | N | 0.511492193 | None | None | N |
| N/E | 0.4176 | ambiguous | 0.3776 | ambiguous | 0.025 | Stabilizing | 0.002 | N | 0.09 | neutral | None | None | None | None | N |
| N/F | 0.6288 | likely_pathogenic | 0.6226 | pathogenic | -0.544 | Destabilizing | 0.836 | D | 0.327 | neutral | None | None | None | None | N |
| N/G | 0.2952 | likely_benign | 0.2862 | benign | -0.469 | Destabilizing | 0.001 | N | 0.079 | neutral | None | None | None | None | N |
| N/H | 0.0962 | likely_benign | 0.0982 | benign | -0.536 | Destabilizing | 0.794 | D | 0.265 | neutral | N | 0.488307038 | None | None | N |
| N/I | 0.4107 | ambiguous | 0.388 | ambiguous | 0.157 | Stabilizing | 0.213 | N | 0.387 | neutral | D | 0.540239947 | None | None | N |
| N/K | 0.2915 | likely_benign | 0.2627 | benign | -0.026 | Destabilizing | 0.213 | N | 0.189 | neutral | N | 0.503238069 | None | None | N |
| N/L | 0.3448 | ambiguous | 0.3361 | benign | 0.157 | Stabilizing | 0.264 | N | 0.365 | neutral | None | None | None | None | N |
| N/M | 0.5109 | ambiguous | 0.4945 | ambiguous | 0.419 | Stabilizing | 0.836 | D | 0.295 | neutral | None | None | None | None | N |
| N/P | 0.8222 | likely_pathogenic | 0.7844 | pathogenic | 0.04 | Stabilizing | 0.593 | D | 0.399 | neutral | None | None | None | None | N |
| N/Q | 0.3267 | likely_benign | 0.317 | benign | -0.267 | Destabilizing | 0.264 | N | 0.252 | neutral | None | None | None | None | N |
| N/R | 0.3304 | likely_benign | 0.3087 | benign | -0.015 | Destabilizing | 0.418 | N | 0.248 | neutral | None | None | None | None | N |
| N/S | 0.1011 | likely_benign | 0.0989 | benign | -0.083 | Destabilizing | 0.002 | N | 0.093 | neutral | N | 0.512377628 | None | None | N |
| N/T | 0.2118 | likely_benign | 0.2004 | benign | 0.026 | Stabilizing | 0.101 | N | 0.214 | neutral | N | 0.499725796 | None | None | N |
| N/V | 0.4412 | ambiguous | 0.4125 | ambiguous | 0.04 | Stabilizing | 0.01 | N | 0.212 | neutral | None | None | None | None | N |
| N/W | 0.8757 | likely_pathogenic | 0.8488 | pathogenic | -0.554 | Destabilizing | 0.983 | D | 0.348 | neutral | None | None | None | None | N |
| N/Y | 0.2171 | likely_benign | 0.2103 | benign | -0.303 | Destabilizing | 0.921 | D | 0.31 | neutral | N | 0.51399539 | 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.