Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23189 | 69790;69791;69792 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| N2AB | 21548 | 64867;64868;64869 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| N2A | 20621 | 62086;62087;62088 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| N2B | 14124 | 42595;42596;42597 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| Novex-1 | 14249 | 42970;42971;42972 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| Novex-2 | 14316 | 43171;43172;43173 | chr2:178576679;178576678;178576677 | chr2:179441406;179441405;179441404 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs747399870  |
-0.488 | 0.998 | N | 0.809 | 0.399 | 0.487912462561 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| A/P | rs747399870 |
-0.488 | 0.998 | N | 0.809 | 0.399 | 0.487912462561 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65689E-05 |
| A/T | None | None | 0.958 | N | 0.51 | 0.299 | 0.384086055536 | gnomAD-4.0.0 | 6.84274E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4503 | ambiguous | 0.4501 | ambiguous | -0.943 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/D | 0.9056 | likely_pathogenic | 0.9339 | pathogenic | -1.195 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| A/E | 0.889 | likely_pathogenic | 0.9098 | pathogenic | -1.193 | Destabilizing | 0.994 | D | 0.781 | deleterious | D | 0.523577977 | None | None | N |
| A/F | 0.7356 | likely_pathogenic | 0.7587 | pathogenic | -0.842 | Destabilizing | 0.991 | D | 0.832 | deleterious | None | None | None | None | N |
| A/G | 0.2709 | likely_benign | 0.3011 | benign | -1.141 | Destabilizing | 0.979 | D | 0.472 | neutral | N | 0.486510525 | None | None | N |
| A/H | 0.9275 | likely_pathogenic | 0.9488 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/I | 0.3134 | likely_benign | 0.3041 | benign | -0.211 | Destabilizing | 0.938 | D | 0.551 | neutral | None | None | None | None | N |
| A/K | 0.9668 | likely_pathogenic | 0.9765 | pathogenic | -1.322 | Destabilizing | 0.995 | D | 0.78 | deleterious | None | None | None | None | N |
| A/L | 0.3718 | ambiguous | 0.3817 | ambiguous | -0.211 | Destabilizing | 0.938 | D | 0.496 | neutral | None | None | None | None | N |
| A/M | 0.426 | ambiguous | 0.4504 | ambiguous | -0.262 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| A/N | 0.7465 | likely_pathogenic | 0.7977 | pathogenic | -1.118 | Destabilizing | 0.998 | D | 0.832 | deleterious | None | None | None | None | N |
| A/P | 0.7255 | likely_pathogenic | 0.7491 | pathogenic | -0.382 | Destabilizing | 0.998 | D | 0.809 | deleterious | N | 0.501260645 | None | None | N |
| A/Q | 0.8779 | likely_pathogenic | 0.9062 | pathogenic | -1.207 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| A/R | 0.947 | likely_pathogenic | 0.961 | pathogenic | -1.02 | Destabilizing | 0.995 | D | 0.816 | deleterious | None | None | None | None | N |
| A/S | 0.1639 | likely_benign | 0.1792 | benign | -1.468 | Destabilizing | 0.979 | D | 0.476 | neutral | N | 0.481381964 | None | None | N |
| A/T | 0.1408 | likely_benign | 0.1499 | benign | -1.362 | Destabilizing | 0.958 | D | 0.51 | neutral | N | 0.473495152 | None | None | N |
| A/V | 0.1098 | likely_benign | 0.1076 | benign | -0.382 | Destabilizing | 0.067 | N | 0.269 | neutral | N | 0.445482553 | None | None | N |
| A/W | 0.9693 | likely_pathogenic | 0.9761 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/Y | 0.8858 | likely_pathogenic | 0.9044 | pathogenic | -0.815 | Destabilizing | 0.995 | D | 0.829 | deleterious | 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.