Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6536 | 19831;19832;19833 | chr2:178728218;178728217;178728216 | chr2:179592945;179592944;179592943 |
| N2AB | 6219 | 18880;18881;18882 | chr2:178728218;178728217;178728216 | chr2:179592945;179592944;179592943 |
| N2A | 5292 | 16099;16100;16101 | chr2:178728218;178728217;178728216 | chr2:179592945;179592944;179592943 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1344640559  |
-2.202 | 0.006 | N | 0.421 | 0.095 | 0.167679373172 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1344640559 |
-2.202 | 0.006 | N | 0.421 | 0.095 | 0.167679373172 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1344640559 |
-2.202 | 0.006 | N | 0.421 | 0.095 | 0.167679373172 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.006 | N | 0.521 | 0.06 | 0.112648838833 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86103E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2779 | likely_benign | 0.3219 | benign | -1.912 | Destabilizing | 0.006 | N | 0.421 | neutral | N | 0.366010544 | None | None | N |
| V/C | 0.7751 | likely_pathogenic | 0.8041 | pathogenic | -1.853 | Destabilizing | 0.981 | D | 0.732 | prob.delet. | None | None | None | None | N |
| V/D | 0.8103 | likely_pathogenic | 0.8702 | pathogenic | -2.814 | Highly Destabilizing | 0.69 | D | 0.811 | deleterious | None | None | None | None | N |
| V/E | 0.7191 | likely_pathogenic | 0.7902 | pathogenic | -2.653 | Highly Destabilizing | 0.773 | D | 0.799 | deleterious | N | 0.461115648 | None | None | N |
| V/F | 0.1636 | likely_benign | 0.1673 | benign | -1.213 | Destabilizing | 0.69 | D | 0.793 | deleterious | None | None | None | None | N |
| V/G | 0.4254 | ambiguous | 0.4993 | ambiguous | -2.383 | Highly Destabilizing | 0.001 | N | 0.646 | neutral | N | 0.442009813 | None | None | N |
| V/H | 0.832 | likely_pathogenic | 0.8777 | pathogenic | -2.126 | Highly Destabilizing | 0.981 | D | 0.771 | deleterious | None | None | None | None | N |
| V/I | 0.0832 | likely_benign | 0.0843 | benign | -0.623 | Destabilizing | 0.002 | N | 0.407 | neutral | None | None | None | None | N |
| V/K | 0.7714 | likely_pathogenic | 0.8481 | pathogenic | -1.547 | Destabilizing | 0.388 | N | 0.791 | deleterious | None | None | None | None | N |
| V/L | 0.1901 | likely_benign | 0.1994 | benign | -0.623 | Destabilizing | 0.015 | N | 0.513 | neutral | N | 0.447876992 | None | None | N |
| V/M | 0.1335 | likely_benign | 0.1503 | benign | -0.821 | Destabilizing | 0.006 | N | 0.521 | neutral | N | 0.464347955 | None | None | N |
| V/N | 0.6715 | likely_pathogenic | 0.741 | pathogenic | -1.828 | Destabilizing | 0.69 | D | 0.805 | deleterious | None | None | None | None | N |
| V/P | 0.9051 | likely_pathogenic | 0.9377 | pathogenic | -1.025 | Destabilizing | 0.818 | D | 0.785 | deleterious | None | None | None | None | N |
| V/Q | 0.6961 | likely_pathogenic | 0.7634 | pathogenic | -1.773 | Destabilizing | 0.818 | D | 0.789 | deleterious | None | None | None | None | N |
| V/R | 0.6855 | likely_pathogenic | 0.7691 | pathogenic | -1.318 | Destabilizing | 0.69 | D | 0.803 | deleterious | None | None | None | None | N |
| V/S | 0.4489 | ambiguous | 0.5213 | ambiguous | -2.383 | Highly Destabilizing | 0.241 | N | 0.767 | deleterious | None | None | None | None | N |
| V/T | 0.3621 | ambiguous | 0.4034 | ambiguous | -2.092 | Highly Destabilizing | 0.388 | N | 0.699 | prob.neutral | None | None | None | None | N |
| V/W | 0.8561 | likely_pathogenic | 0.882 | pathogenic | -1.702 | Destabilizing | 0.981 | D | 0.771 | deleterious | None | None | None | None | N |
| V/Y | 0.6299 | likely_pathogenic | 0.6721 | pathogenic | -1.343 | Destabilizing | 0.818 | D | 0.789 | 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.