Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22295 | 67108;67109;67110 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| N2AB | 20654 | 62185;62186;62187 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| N2A | 19727 | 59404;59405;59406 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| N2B | 13230 | 39913;39914;39915 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| Novex-1 | 13355 | 40288;40289;40290 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| Novex-2 | 13422 | 40489;40490;40491 | chr2:178580496;178580495;178580494 | chr2:179445223;179445222;179445221 |
| 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 | rs1202934929  |
-1.682 | 1.0 | D | 0.751 | 0.913 | 0.920014922596 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/C | rs1202934929 |
-1.682 | 1.0 | D | 0.751 | 0.913 | 0.920014922596 | gnomAD-4.0.0 | 2.56498E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79058E-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 | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -2.803 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.688903408 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/F | 0.6856 | likely_pathogenic | 0.6758 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.688701604 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| W/I | 0.9789 | likely_pathogenic | 0.9766 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/L | 0.9653 | likely_pathogenic | 0.9606 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.688701604 | None | None | N |
| W/M | 0.9939 | likely_pathogenic | 0.9936 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.421 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.688903408 | None | None | N |
| W/S | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -3.708 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.688903408 | None | None | N |
| W/T | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.495 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| W/V | 0.9844 | likely_pathogenic | 0.9829 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| W/Y | 0.9452 | likely_pathogenic | 0.943 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.813 | 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.