Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28166 | 84721;84722;84723 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| N2AB | 26525 | 79798;79799;79800 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| N2A | 25598 | 77017;77018;77019 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| N2B | 19101 | 57526;57527;57528 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| Novex-1 | 19226 | 57901;57902;57903 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| Novex-2 | 19293 | 58102;58103;58104 | chr2:178561636;178561635;178561634 | chr2:179426363;179426362;179426361 |
| 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/T | rs1703694418  |
None | 0.958 | N | 0.632 | 0.255 | 0.301122078929 | gnomAD-4.0.0 | 1.59815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78334E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1553564661 |
None | 0.142 | N | 0.315 | 0.302 | 0.260735089382 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1553564661 |
None | 0.142 | N | 0.315 | 0.302 | 0.260735089382 | gnomAD-4.0.0 | 3.85453E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1978E-06 | 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 | 0.3395 | likely_benign | 0.3197 | benign | -0.911 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/D | 0.7445 | likely_pathogenic | 0.7123 | pathogenic | -2.078 | Highly Destabilizing | 0.998 | D | 0.813 | deleterious | N | 0.494321658 | None | None | N |
| A/E | 0.5997 | likely_pathogenic | 0.5563 | ambiguous | -2.143 | Highly Destabilizing | 0.995 | D | 0.781 | deleterious | None | None | None | None | N |
| A/F | 0.5104 | ambiguous | 0.467 | ambiguous | -1.304 | Destabilizing | 0.991 | D | 0.833 | deleterious | None | None | None | None | N |
| A/G | 0.2138 | likely_benign | 0.1986 | benign | -1.083 | Destabilizing | 0.979 | D | 0.552 | neutral | N | 0.477231361 | None | None | N |
| A/H | 0.6551 | likely_pathogenic | 0.6246 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/I | 0.2938 | likely_benign | 0.2722 | benign | -0.459 | Destabilizing | 0.938 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/K | 0.691 | likely_pathogenic | 0.6558 | pathogenic | -1.211 | Destabilizing | 0.995 | D | 0.787 | deleterious | None | None | None | None | N |
| A/L | 0.3473 | ambiguous | 0.3152 | benign | -0.459 | Destabilizing | 0.938 | D | 0.548 | neutral | None | None | None | None | N |
| A/M | 0.3364 | likely_benign | 0.3089 | benign | -0.192 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| A/N | 0.498 | ambiguous | 0.4723 | ambiguous | -0.989 | Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | N |
| A/P | 0.579 | likely_pathogenic | 0.525 | ambiguous | -0.561 | Destabilizing | 0.998 | D | 0.81 | deleterious | N | 0.471951442 | None | None | N |
| A/Q | 0.5289 | ambiguous | 0.5047 | ambiguous | -1.248 | Destabilizing | 0.998 | D | 0.816 | deleterious | None | None | None | None | N |
| A/R | 0.5849 | likely_pathogenic | 0.5467 | ambiguous | -0.815 | Destabilizing | 0.995 | D | 0.813 | deleterious | None | None | None | None | N |
| A/S | 0.109 | likely_benign | 0.107 | benign | -1.143 | Destabilizing | 0.979 | D | 0.537 | neutral | N | 0.49868232 | None | None | N |
| A/T | 0.1064 | likely_benign | 0.105 | benign | -1.143 | Destabilizing | 0.958 | D | 0.632 | neutral | N | 0.490620197 | None | None | N |
| A/V | 0.1382 | likely_benign | 0.1311 | benign | -0.561 | Destabilizing | 0.142 | N | 0.315 | neutral | N | 0.375889182 | None | None | N |
| A/W | 0.869 | likely_pathogenic | 0.8391 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/Y | 0.6041 | likely_pathogenic | 0.5587 | ambiguous | -1.271 | Destabilizing | 0.995 | D | 0.83 | 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.