Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14858 | 44797;44798;44799 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| N2AB | 13217 | 39874;39875;39876 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| N2A | 12290 | 37093;37094;37095 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| N2B | 5793 | 17602;17603;17604 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| Novex-1 | 5918 | 17977;17978;17979 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| Novex-2 | 5985 | 18178;18179;18180 | chr2:178624708;178624707;178624706 | chr2:179489435;179489434;179489433 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | N | 0.803 | 0.425 | 0.45063746488 | gnomAD-4.0.0 | 7.53285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00059E-06 | 0 | 1.6587E-05 |
| P/S | rs763784981  |
-1.08 | 1.0 | N | 0.846 | 0.383 | 0.366277470483 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/S | rs763784981 |
-1.08 | 1.0 | N | 0.846 | 0.383 | 0.366277470483 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs763784981 |
-1.08 | 1.0 | N | 0.846 | 0.383 | 0.366277470483 | gnomAD-4.0.0 | 6.41825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19892E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1886 | likely_benign | 0.2229 | benign | -0.895 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.507446709 | None | None | N |
| P/C | 0.8168 | likely_pathogenic | 0.8832 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/D | 0.7823 | likely_pathogenic | 0.8324 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/E | 0.5685 | likely_pathogenic | 0.6424 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.7919 | likely_pathogenic | 0.8512 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/G | 0.5953 | likely_pathogenic | 0.6471 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/H | 0.3724 | ambiguous | 0.4725 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.549530856 | None | None | N |
| P/I | 0.6595 | likely_pathogenic | 0.7246 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/K | 0.6182 | likely_pathogenic | 0.6929 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/L | 0.3259 | likely_benign | 0.3858 | ambiguous | -0.379 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.530670069 | None | None | N |
| P/M | 0.6253 | likely_pathogenic | 0.6788 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/N | 0.6794 | likely_pathogenic | 0.7448 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Q | 0.3855 | ambiguous | 0.4628 | ambiguous | -0.54 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/R | 0.4122 | ambiguous | 0.5157 | ambiguous | -0.159 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.47383407 | None | None | N |
| P/S | 0.3716 | ambiguous | 0.4523 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.468366247 | None | None | N |
| P/T | 0.334 | likely_benign | 0.3949 | ambiguous | -0.789 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.5130631 | None | None | N |
| P/V | 0.5103 | ambiguous | 0.5827 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/W | 0.8949 | likely_pathogenic | 0.9352 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/Y | 0.6992 | likely_pathogenic | 0.7843 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.781 | 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.