Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21595 | 65008;65009;65010 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| N2AB | 19954 | 60085;60086;60087 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| N2A | 19027 | 57304;57305;57306 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| N2B | 12530 | 37813;37814;37815 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| Novex-1 | 12655 | 38188;38189;38190 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| Novex-2 | 12722 | 38389;38390;38391 | chr2:178584858;178584857;178584856 | chr2:179449585;179449584;179449583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs2048575709  |
None | 1.0 | D | 0.833 | 0.798 | 0.861130682282 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs2048575709 |
None | 1.0 | D | 0.833 | 0.798 | 0.861130682282 | gnomAD-4.0.0 | 6.58155E-06 | None | None | None | None | N | None | 0 | 6.55996E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -3.678 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| Y/C | 0.9599 | likely_pathogenic | 0.9674 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.662549256 | None | None | N |
| Y/D | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -3.936 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.662952865 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.723 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/F | 0.4086 | ambiguous | 0.3988 | ambiguous | -1.419 | Destabilizing | 0.999 | D | 0.652 | neutral | D | 0.544348883 | None | None | N |
| Y/G | 0.9937 | likely_pathogenic | 0.9952 | pathogenic | -4.079 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/H | 0.9882 | likely_pathogenic | 0.9896 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.646297731 | None | None | N |
| Y/I | 0.9855 | likely_pathogenic | 0.9862 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.55 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/L | 0.9621 | likely_pathogenic | 0.9646 | pathogenic | -2.309 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| Y/M | 0.9911 | likely_pathogenic | 0.9916 | pathogenic | -2.104 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/N | 0.9865 | likely_pathogenic | 0.9893 | pathogenic | -3.322 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.662952865 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.786 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -3.07 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| Y/R | 0.9965 | likely_pathogenic | 0.9971 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| Y/S | 0.993 | likely_pathogenic | 0.9944 | pathogenic | -3.65 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.662952865 | None | None | N |
| Y/T | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -3.319 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/V | 0.9729 | likely_pathogenic | 0.9759 | pathogenic | -2.786 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| Y/W | 0.9333 | likely_pathogenic | 0.937 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.772 | 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.