Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17883 | 53872;53873;53874 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| N2AB | 16242 | 48949;48950;48951 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| N2A | 15315 | 46168;46169;46170 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| N2B | 8818 | 26677;26678;26679 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| Novex-1 | 8943 | 27052;27053;27054 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| Novex-2 | 9010 | 27253;27254;27255 | chr2:178605648;178605647;178605646 | chr2:179470375;179470374;179470373 |
| 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 | rs774663244  |
-2.181 | 1.0 | D | 0.839 | 0.875 | 0.889997138036 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| W/C | rs774663244 |
-2.181 | 1.0 | D | 0.839 | 0.875 | 0.889997138036 | gnomAD-4.0.0 | 1.59915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4393E-05 | 0 |
| W/R | None | None | 1.0 | D | 0.907 | 0.92 | 0.910700704267 | gnomAD-4.0.0 | 1.59817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87254E-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 | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -3.654 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/C | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.658827443 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.817 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/F | 0.8024 | likely_pathogenic | 0.7514 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/G | 0.9949 | likely_pathogenic | 0.9891 | pathogenic | -3.891 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.658827443 | None | None | N |
| W/H | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.922 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/I | 0.9971 | likely_pathogenic | 0.9947 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/L | 0.9924 | likely_pathogenic | 0.9869 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.657818421 | None | None | N |
| W/M | 0.9983 | likely_pathogenic | 0.9968 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.388 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.265 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.658827443 | None | None | N |
| W/S | 0.9992 | likely_pathogenic | 0.9983 | pathogenic | -3.574 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.658827443 | None | None | N |
| W/T | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -3.381 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/V | 0.9978 | likely_pathogenic | 0.9954 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/Y | 0.9774 | likely_pathogenic | 0.9669 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.842 | 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.