Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32048 | 96367;96368;96369 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| N2AB | 30407 | 91444;91445;91446 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| N2A | 29480 | 88663;88664;88665 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| N2B | 22983 | 69172;69173;69174 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| Novex-1 | 23108 | 69547;69548;69549 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| Novex-2 | 23175 | 69748;69749;69750 | chr2:178544002;178544001;178544000 | chr2:179408729;179408728;179408727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.813 | 0.916 | 0.81521232876 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85876E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9958 | likely_pathogenic | 0.9957 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.997 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.729532222 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/F | 0.6142 | likely_pathogenic | 0.6536 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/G | 0.9908 | likely_pathogenic | 0.9894 | pathogenic | -2.808 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.729330418 | None | None | N |
| W/H | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/I | 0.9759 | likely_pathogenic | 0.9748 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/L | 0.9608 | likely_pathogenic | 0.9597 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.697291696 | None | None | N |
| W/M | 0.9912 | likely_pathogenic | 0.9905 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.773 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.729532222 | None | None | N |
| W/S | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | -3.39 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.729532222 | None | None | N |
| W/T | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -3.178 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/V | 0.98 | likely_pathogenic | 0.979 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/Y | 0.9226 | likely_pathogenic | 0.9276 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.797 | 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.