Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| N2AB | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| N2A | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| N2B | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| Novex-1 | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| Novex-2 | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
| Novex-3 | 65 | 418;419;420 | chr2:178802240;178802239;178802238 | chr2:179666967;179666966;179666965 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | None | None | 0.998 | D | 0.679 | 0.498 | 0.449669948863 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | -0.757(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66354E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9655 | likely_pathogenic | 0.9691 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | -0.459(TCAP) | N |
| L/C | 0.9786 | likely_pathogenic | 0.9767 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -0.746(TCAP) | N |
| L/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.14 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | -0.453(TCAP) | N |
| L/E | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -2.813 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -0.569(TCAP) | N |
| L/F | 0.6033 | likely_pathogenic | 0.6013 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | -1.789(TCAP) | N |
| L/G | 0.9934 | likely_pathogenic | 0.9938 | pathogenic | -2.98 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -0.323(TCAP) | N |
| L/H | 0.9951 | likely_pathogenic | 0.9953 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -1.029(TCAP) | N |
| L/I | 0.3111 | likely_benign | 0.3102 | benign | -0.548 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | -0.916(TCAP) | N |
| L/K | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -0.602(TCAP) | N |
| L/M | 0.3622 | ambiguous | 0.3592 | ambiguous | -0.77 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.722591608 | None | -1.235(TCAP) | N |
| L/N | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | -0.349(TCAP) | N |
| L/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.85272027 | None | -0.757(TCAP) | N |
| L/Q | 0.99 | likely_pathogenic | 0.991 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.85272027 | None | -0.437(TCAP) | N |
| L/R | 0.9895 | likely_pathogenic | 0.9904 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.800967843 | None | -0.719(TCAP) | N |
| L/S | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -3.13 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | -0.046(TCAP) | N |
| L/T | 0.9906 | likely_pathogenic | 0.9916 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | -0.203(TCAP) | N |
| L/V | 0.4066 | ambiguous | 0.4238 | ambiguous | -1.147 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | D | 0.718486132 | None | -0.757(TCAP) | N |
| L/W | 0.9734 | likely_pathogenic | 0.9726 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -2.389(TCAP) | N |
| L/Y | 0.9754 | likely_pathogenic | 0.9745 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -1.864(TCAP) | 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.