Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25761 | 77506;77507;77508 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| N2AB | 24120 | 72583;72584;72585 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| N2A | 23193 | 69802;69803;69804 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| N2B | 16696 | 50311;50312;50313 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| Novex-1 | 16821 | 50686;50687;50688 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| Novex-2 | 16888 | 50887;50888;50889 | chr2:178568851;178568850;178568849 | chr2:179433578;179433577;179433576 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs775330925  |
-1.217 | 0.991 | D | 0.839 | 0.715 | 0.757552035147 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| L/I | rs775330925 |
-1.217 | 0.991 | D | 0.839 | 0.715 | 0.757552035147 | gnomAD-4.0.0 | 3.18564E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86664E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9706 | likely_pathogenic | 0.9666 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/C | 0.9671 | likely_pathogenic | 0.9606 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/E | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -2.556 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/F | 0.9372 | likely_pathogenic | 0.923 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/G | 0.995 | likely_pathogenic | 0.9943 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/H | 0.9947 | likely_pathogenic | 0.994 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| L/I | 0.4259 | ambiguous | 0.3876 | ambiguous | -1.325 | Destabilizing | 0.991 | D | 0.839 | deleterious | D | 0.618927278 | None | None | N |
| L/K | 0.9935 | likely_pathogenic | 0.9932 | pathogenic | -1.949 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| L/M | 0.5725 | likely_pathogenic | 0.54 | ambiguous | -1.328 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/N | 0.9958 | likely_pathogenic | 0.9954 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/P | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.67181974 | None | None | N |
| L/Q | 0.9882 | likely_pathogenic | 0.986 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.634441231 | None | None | N |
| L/R | 0.9874 | likely_pathogenic | 0.9864 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.655800379 | None | None | N |
| L/S | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/T | 0.9755 | likely_pathogenic | 0.9698 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/V | 0.4697 | ambiguous | 0.4251 | ambiguous | -1.711 | Destabilizing | 0.993 | D | 0.851 | deleterious | D | 0.595125042 | None | None | N |
| L/W | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| L/Y | 0.9949 | likely_pathogenic | 0.9944 | pathogenic | -1.875 | Destabilizing | 0.999 | D | 0.829 | 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.