Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31115 | 93568;93569;93570 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| N2AB | 29474 | 88645;88646;88647 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| N2A | 28547 | 85864;85865;85866 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| N2B | 22050 | 66373;66374;66375 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| Novex-1 | 22175 | 66748;66749;66750 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| Novex-2 | 22242 | 66949;66950;66951 | chr2:178548283;178548282;178548281 | chr2:179413010;179413009;179413008 |
| 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 | rs1192880016  |
None | 1.0 | N | 0.825 | 0.422 | 0.464098490096 | 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/P | rs1192880016 |
None | 1.0 | N | 0.825 | 0.422 | 0.464098490096 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.686 | 0.319 | 0.581565680727 | gnomAD-4.0.0 | 6.84183E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-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 | 0.6026 | likely_pathogenic | 0.607 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/D | 0.4701 | ambiguous | 0.3955 | ambiguous | -2.366 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.404131789 | None | None | N |
| A/E | 0.4739 | ambiguous | 0.3919 | ambiguous | -2.37 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/F | 0.489 | ambiguous | 0.4426 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/G | 0.1303 | likely_benign | 0.1216 | benign | -1.399 | Destabilizing | 1.0 | D | 0.579 | neutral | N | 0.386679392 | None | None | N |
| A/H | 0.6788 | likely_pathogenic | 0.6127 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/I | 0.5334 | ambiguous | 0.5181 | ambiguous | -0.483 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/K | 0.7617 | likely_pathogenic | 0.6686 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/L | 0.2027 | likely_benign | 0.1853 | benign | -0.483 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/M | 0.3085 | likely_benign | 0.2842 | benign | -0.281 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/N | 0.4154 | ambiguous | 0.3865 | ambiguous | -1.275 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/P | 0.8648 | likely_pathogenic | 0.8616 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.516398502 | None | None | N |
| A/Q | 0.5036 | ambiguous | 0.4364 | ambiguous | -1.439 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/R | 0.7171 | likely_pathogenic | 0.629 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/S | 0.0888 | likely_benign | 0.0846 | benign | -1.492 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.336250571 | None | None | N |
| A/T | 0.1575 | likely_benign | 0.1484 | benign | -1.428 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.445383766 | None | None | N |
| A/V | 0.2907 | likely_benign | 0.2722 | benign | -0.659 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.498679533 | None | None | N |
| A/W | 0.8869 | likely_pathogenic | 0.87 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/Y | 0.648 | likely_pathogenic | 0.6019 | pathogenic | -1.243 | Destabilizing | 1.0 | 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.