Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31030 | 93313;93314;93315 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| N2AB | 29389 | 88390;88391;88392 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| N2A | 28462 | 85609;85610;85611 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| N2B | 21965 | 66118;66119;66120 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| Novex-1 | 22090 | 66493;66494;66495 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| Novex-2 | 22157 | 66694;66695;66696 | chr2:178548538;178548537;178548536 | chr2:179413265;179413264;179413263 |
| 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/Q | rs766391515  |
-0.62 | 0.999 | N | 0.532 | 0.256 | 0.279776271856 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| R/Q | rs766391515 |
-0.62 | 0.999 | N | 0.532 | 0.256 | 0.279776271856 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs766391515 |
-0.62 | 0.999 | N | 0.532 | 0.256 | 0.279776271856 | gnomAD-4.0.0 | 9.29512E-06 | None | None | None | None | N | None | 0 | 1.66689E-05 | None | 0 | 4.45494E-05 | None | 0 | 0 | 7.6283E-06 | 2.19578E-05 | 1.60102E-05 |
| R/W | rs879008666 |
None | 1.0 | N | 0.791 | 0.401 | None | 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 |
| R/W | rs879008666 |
None | 1.0 | N | 0.791 | 0.401 | None | gnomAD-4.0.0 | 3.71825E-06 | None | None | None | None | N | None | 2.67065E-05 | 0 | None | 0 | 4.45673E-05 | None | 0 | 0 | 8.47591E-07 | 1.09818E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4808 | ambiguous | 0.3976 | ambiguous | -0.167 | Destabilizing | 0.964 | D | 0.547 | neutral | None | None | None | None | N |
| R/C | 0.2273 | likely_benign | 0.2272 | benign | -0.225 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/D | 0.8865 | likely_pathogenic | 0.8331 | pathogenic | -0.146 | Destabilizing | 0.998 | D | 0.582 | neutral | None | None | None | None | N |
| R/E | 0.5769 | likely_pathogenic | 0.5005 | ambiguous | -0.094 | Destabilizing | 0.985 | D | 0.444 | neutral | None | None | None | None | N |
| R/F | 0.7338 | likely_pathogenic | 0.7102 | pathogenic | -0.404 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/G | 0.4026 | ambiguous | 0.316 | benign | -0.356 | Destabilizing | 0.283 | N | 0.325 | neutral | N | 0.478074974 | None | None | N |
| R/H | 0.1605 | likely_benign | 0.1517 | benign | -0.781 | Destabilizing | 0.999 | D | 0.462 | neutral | None | None | None | None | N |
| R/I | 0.4386 | ambiguous | 0.4113 | ambiguous | 0.298 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/K | 0.1192 | likely_benign | 0.1122 | benign | -0.216 | Destabilizing | 0.469 | N | 0.124 | neutral | None | None | None | None | N |
| R/L | 0.3585 | ambiguous | 0.3435 | ambiguous | 0.298 | Stabilizing | 0.996 | D | 0.58 | neutral | N | 0.468063875 | None | None | N |
| R/M | 0.449 | ambiguous | 0.3933 | ambiguous | 0.01 | Stabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| R/N | 0.7678 | likely_pathogenic | 0.6982 | pathogenic | 0.126 | Stabilizing | 0.993 | D | 0.472 | neutral | None | None | None | None | N |
| R/P | 0.687 | likely_pathogenic | 0.6242 | pathogenic | 0.163 | Stabilizing | 1.0 | D | 0.669 | neutral | N | 0.502431914 | None | None | N |
| R/Q | 0.1362 | likely_benign | 0.1259 | benign | -0.052 | Destabilizing | 0.999 | D | 0.532 | neutral | N | 0.468873569 | None | None | N |
| R/S | 0.6673 | likely_pathogenic | 0.5779 | pathogenic | -0.295 | Destabilizing | 0.985 | D | 0.524 | neutral | None | None | None | None | N |
| R/T | 0.441 | ambiguous | 0.3611 | ambiguous | -0.115 | Destabilizing | 0.993 | D | 0.555 | neutral | None | None | None | None | N |
| R/V | 0.4909 | ambiguous | 0.4704 | ambiguous | 0.163 | Stabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | N |
| R/W | 0.2948 | likely_benign | 0.2964 | benign | -0.395 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.50938772 | None | None | N |
| R/Y | 0.5761 | likely_pathogenic | 0.5494 | ambiguous | -0.004 | Destabilizing | 0.999 | D | 0.677 | prob.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.