Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6713 | 20362;20363;20364 | chr2:178727228;178727227;178727226 | chr2:179591955;179591954;179591953 |
| N2AB | 6396 | 19411;19412;19413 | chr2:178727228;178727227;178727226 | chr2:179591955;179591954;179591953 |
| N2A | 5469 | 16630;16631;16632 | chr2:178727228;178727227;178727226 | chr2:179591955;179591954;179591953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs375668907  |
-0.346 | 0.099 | N | 0.159 | 0.08 | 0.0611884634855 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/N | rs375668907 |
-0.346 | 0.099 | N | 0.159 | 0.08 | 0.0611884634855 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| K/N | rs375668907 |
-0.346 | 0.099 | N | 0.159 | 0.08 | 0.0611884634855 | gnomAD-4.0.0 | 1.5498E-05 | None | None | None | None | N | None | 0 | 3.33723E-05 | None | 0 | 2.23085E-05 | None | 0 | 0 | 1.78049E-05 | 0 | 1.60159E-05 |
| K/T | rs1410340266 |
-0.607 | 0.712 | N | 0.409 | 0.336 | 0.257292322809 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66389E-04 |
| K/T | rs1410340266 |
-0.607 | 0.712 | N | 0.409 | 0.336 | 0.257292322809 | gnomAD-4.0.0 | 3.18491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86056E-06 | 0 | 3.0259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4513 | ambiguous | 0.5789 | pathogenic | -0.528 | Destabilizing | 0.845 | D | 0.375 | neutral | None | None | None | None | N |
| K/C | 0.8296 | likely_pathogenic | 0.8744 | pathogenic | -0.37 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| K/D | 0.591 | likely_pathogenic | 0.697 | pathogenic | -0.007 | Destabilizing | 0.845 | D | 0.403 | neutral | None | None | None | None | N |
| K/E | 0.2569 | likely_benign | 0.3665 | ambiguous | 0.092 | Stabilizing | 0.553 | D | 0.401 | neutral | N | 0.490091761 | None | None | N |
| K/F | 0.8232 | likely_pathogenic | 0.8912 | pathogenic | -0.308 | Destabilizing | 0.989 | D | 0.585 | neutral | None | None | None | None | N |
| K/G | 0.5609 | ambiguous | 0.7004 | pathogenic | -0.884 | Destabilizing | 0.916 | D | 0.412 | neutral | None | None | None | None | N |
| K/H | 0.3459 | ambiguous | 0.4182 | ambiguous | -1.312 | Destabilizing | 0.941 | D | 0.435 | neutral | None | None | None | None | N |
| K/I | 0.395 | ambiguous | 0.4878 | ambiguous | 0.384 | Stabilizing | 0.695 | D | 0.565 | neutral | None | None | None | None | N |
| K/L | 0.4343 | ambiguous | 0.5436 | ambiguous | 0.384 | Stabilizing | 0.243 | N | 0.437 | neutral | None | None | None | None | N |
| K/M | 0.3123 | likely_benign | 0.4123 | ambiguous | 0.333 | Stabilizing | 0.963 | D | 0.438 | neutral | N | 0.487029233 | None | None | N |
| K/N | 0.4283 | ambiguous | 0.5461 | ambiguous | -0.271 | Destabilizing | 0.099 | N | 0.159 | neutral | N | 0.514622059 | None | None | N |
| K/P | 0.8638 | likely_pathogenic | 0.9121 | pathogenic | 0.111 | Stabilizing | 0.987 | D | 0.423 | neutral | None | None | None | None | N |
| K/Q | 0.1824 | likely_benign | 0.2325 | benign | -0.335 | Destabilizing | 0.03 | N | 0.228 | neutral | N | 0.461176297 | None | None | N |
| K/R | 0.0856 | likely_benign | 0.0933 | benign | -0.546 | Destabilizing | 0.432 | N | 0.392 | neutral | N | 0.454125387 | None | None | N |
| K/S | 0.478 | ambiguous | 0.6124 | pathogenic | -0.912 | Destabilizing | 0.845 | D | 0.349 | neutral | None | None | None | None | N |
| K/T | 0.1998 | likely_benign | 0.2738 | benign | -0.604 | Destabilizing | 0.712 | D | 0.409 | neutral | N | 0.466100595 | None | None | N |
| K/V | 0.4208 | ambiguous | 0.5136 | ambiguous | 0.111 | Stabilizing | 0.597 | D | 0.459 | neutral | None | None | None | None | N |
| K/W | 0.8194 | likely_pathogenic | 0.8778 | pathogenic | -0.207 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| K/Y | 0.669 | likely_pathogenic | 0.7688 | pathogenic | 0.088 | Stabilizing | 0.783 | D | 0.505 | 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.