Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27191 | 81796;81797;81798 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| N2AB | 25550 | 76873;76874;76875 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| N2A | 24623 | 74092;74093;74094 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| N2B | 18126 | 54601;54602;54603 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| Novex-1 | 18251 | 54976;54977;54978 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| Novex-2 | 18318 | 55177;55178;55179 | chr2:178564561;178564560;178564559 | chr2:179429288;179429287;179429286 |
| 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 | rs267599035  |
None | 1.0 | D | 0.847 | 0.65 | 0.895607803642 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -3.708 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/C | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.682429669 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -4.027 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.92 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/F | 0.903 | likely_pathogenic | 0.9099 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/G | 0.9931 | likely_pathogenic | 0.9909 | pathogenic | -3.932 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.682429669 | None | None | N |
| W/H | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.87 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/I | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.0 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/L | 0.9943 | likely_pathogenic | 0.9924 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.681218844 | None | None | N |
| W/M | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.69 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.148 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.565 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.588 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.682429669 | None | None | N |
| W/S | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -3.805 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.682429669 | None | None | N |
| W/T | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.628 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/V | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -3.148 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/Y | 0.9763 | likely_pathogenic | 0.975 | pathogenic | -2.337 | Highly Destabilizing | 1.0 | D | 0.856 | 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.