Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6620 | 20083;20084;20085 | chr2:178727720;178727719;178727718 | chr2:179592447;179592446;179592445 |
| N2AB | 6303 | 19132;19133;19134 | chr2:178727720;178727719;178727718 | chr2:179592447;179592446;179592445 |
| N2A | 5376 | 16351;16352;16353 | chr2:178727720;178727719;178727718 | chr2:179592447;179592446;179592445 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.565 | N | 0.7 | 0.295 | 0.774720988625 | gnomAD-4.0.0 | 6.84404E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99711E-07 | 0 | 0 |
| C/R | rs1470771648  |
None | 0.949 | N | 0.801 | 0.581 | 0.841100326879 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1470771648 |
None | 0.949 | N | 0.801 | 0.581 | 0.841100326879 | gnomAD-4.0.0 | 6.5735E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs935626596 |
-1.366 | 0.003 | N | 0.453 | 0.285 | 0.592799456133 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66945E-04 | None | 0 | None | 0 | 8.88E-06 | 0 |
| C/Y | rs935626596 |
-1.366 | 0.003 | N | 0.453 | 0.285 | 0.592799456133 | gnomAD-4.0.0 | 6.15963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52016E-05 | None | 0 | 0 | 5.39827E-06 | 2.31954E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4469 | ambiguous | 0.3756 | ambiguous | -1.784 | Destabilizing | 0.587 | D | 0.624 | neutral | None | None | None | None | N |
| C/D | 0.8122 | likely_pathogenic | 0.794 | pathogenic | -0.605 | Destabilizing | 0.987 | D | 0.789 | deleterious | None | None | None | None | N |
| C/E | 0.8783 | likely_pathogenic | 0.8576 | pathogenic | -0.42 | Destabilizing | 0.961 | D | 0.79 | deleterious | None | None | None | None | N |
| C/F | 0.2311 | likely_benign | 0.2109 | benign | -1.043 | Destabilizing | 0.565 | D | 0.7 | prob.neutral | N | 0.499616187 | None | None | N |
| C/G | 0.2451 | likely_benign | 0.2014 | benign | -2.145 | Highly Destabilizing | 0.949 | D | 0.752 | deleterious | N | 0.517415301 | None | None | N |
| C/H | 0.5671 | likely_pathogenic | 0.5486 | ambiguous | -2.19 | Highly Destabilizing | 0.923 | D | 0.795 | deleterious | None | None | None | None | N |
| C/I | 0.457 | ambiguous | 0.4108 | ambiguous | -0.823 | Destabilizing | 0.923 | D | 0.716 | prob.delet. | None | None | None | None | N |
| C/K | 0.9115 | likely_pathogenic | 0.8972 | pathogenic | -0.974 | Destabilizing | 0.923 | D | 0.776 | deleterious | None | None | None | None | N |
| C/L | 0.5147 | ambiguous | 0.4631 | ambiguous | -0.823 | Destabilizing | 0.633 | D | 0.663 | neutral | None | None | None | None | N |
| C/M | 0.6443 | likely_pathogenic | 0.5928 | pathogenic | 0.193 | Stabilizing | 0.996 | D | 0.712 | prob.delet. | None | None | None | None | N |
| C/N | 0.5245 | ambiguous | 0.4862 | ambiguous | -1.279 | Destabilizing | 0.961 | D | 0.799 | deleterious | None | None | None | None | N |
| C/P | 0.9603 | likely_pathogenic | 0.9604 | pathogenic | -1.119 | Destabilizing | 0.987 | D | 0.803 | deleterious | None | None | None | None | N |
| C/Q | 0.7473 | likely_pathogenic | 0.7037 | pathogenic | -0.951 | Destabilizing | 0.961 | D | 0.801 | deleterious | None | None | None | None | N |
| C/R | 0.6738 | likely_pathogenic | 0.6413 | pathogenic | -1.169 | Destabilizing | 0.949 | D | 0.801 | deleterious | N | 0.49630931 | None | None | N |
| C/S | 0.2815 | likely_benign | 0.2424 | benign | -1.773 | Destabilizing | 0.722 | D | 0.673 | neutral | N | 0.514991071 | None | None | N |
| C/T | 0.4402 | ambiguous | 0.3787 | ambiguous | -1.385 | Destabilizing | 0.875 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/V | 0.3894 | ambiguous | 0.3422 | ambiguous | -1.119 | Destabilizing | 0.775 | D | 0.664 | neutral | None | None | None | None | N |
| C/W | 0.5602 | ambiguous | 0.5555 | ambiguous | -1.194 | Destabilizing | 0.986 | D | 0.721 | prob.delet. | N | 0.486364346 | None | None | N |
| C/Y | 0.215 | likely_benign | 0.215 | benign | -1.116 | Destabilizing | 0.003 | N | 0.453 | neutral | N | 0.441818677 | 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.