Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14351 | 43276;43277;43278 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| N2AB | 12710 | 38353;38354;38355 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| N2A | 11783 | 35572;35573;35574 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| N2B | 5286 | 16081;16082;16083 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| Novex-1 | 5411 | 16456;16457;16458 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| Novex-2 | 5478 | 16657;16658;16659 | chr2:178633222;178633221;178633220 | chr2:179497949;179497948;179497947 |
| 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 | rs755308403  |
-1.233 | 0.027 | D | 0.609 | 0.711 | 0.599286835281 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| W/C | rs755308403 |
-1.233 | 0.027 | D | 0.609 | 0.711 | 0.599286835281 | gnomAD-4.0.0 | 1.36907E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32072E-05 | 0 |
| W/G | rs794729430 |
None | 0.964 | D | 0.729 | 0.696 | 0.813335362941 | gnomAD-4.0.0 | 1.59299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86072E-06 | 0 | 0 |
| W/R | rs794729430 |
-2.177 | 0.988 | D | 0.827 | 0.75 | 0.828620666864 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs794729430 |
-2.177 | 0.988 | D | 0.827 | 0.75 | 0.828620666864 | gnomAD-4.0.0 | 1.59299E-06 | None | None | None | None | N | None | 0 | 2.28854E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | None | None | 0.931 | D | 0.815 | 0.515 | 0.839276590097 | gnomAD-4.0.0 | 6.84543E-07 | None | None | None | None | N | None | 2.99204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -2.294 | Highly Destabilizing | 0.717 | D | 0.744 | deleterious | None | None | None | None | N |
| W/C | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.207 | Destabilizing | 0.027 | N | 0.609 | neutral | D | 0.75376956 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.987 | Highly Destabilizing | 0.991 | D | 0.829 | deleterious | None | None | None | None | N |
| W/E | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.842 | Highly Destabilizing | 0.991 | D | 0.833 | deleterious | None | None | None | None | N |
| W/F | 0.8482 | likely_pathogenic | 0.7994 | pathogenic | -1.438 | Destabilizing | 0.973 | D | 0.675 | prob.neutral | None | None | None | None | N |
| W/G | 0.982 | likely_pathogenic | 0.9831 | pathogenic | -2.561 | Highly Destabilizing | 0.964 | D | 0.729 | deleterious | D | 0.75384719 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.206 | Highly Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| W/I | 0.9891 | likely_pathogenic | 0.9862 | pathogenic | -1.304 | Destabilizing | 0.947 | D | 0.834 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.141 | Highly Destabilizing | 0.973 | D | 0.839 | deleterious | None | None | None | None | N |
| W/L | 0.9742 | likely_pathogenic | 0.9666 | pathogenic | -1.304 | Destabilizing | 0.657 | D | 0.719 | prob.delet. | D | 0.75519437 | None | None | N |
| W/M | 0.9954 | likely_pathogenic | 0.9935 | pathogenic | -0.934 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.933 | Highly Destabilizing | 0.991 | D | 0.815 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.662 | Destabilizing | 0.991 | D | 0.814 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.597 | Highly Destabilizing | 0.991 | D | 0.771 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.342 | Highly Destabilizing | 0.988 | D | 0.827 | deleterious | D | 0.75376956 | None | None | N |
| W/S | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -2.98 | Highly Destabilizing | 0.931 | D | 0.815 | deleterious | D | 0.75384719 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.748 | Highly Destabilizing | 0.947 | D | 0.736 | deleterious | None | None | None | None | N |
| W/V | 0.9913 | likely_pathogenic | 0.9888 | pathogenic | -1.662 | Destabilizing | 0.947 | D | 0.801 | deleterious | None | None | None | None | N |
| W/Y | 0.9573 | likely_pathogenic | 0.9475 | pathogenic | -1.304 | Destabilizing | 0.991 | D | 0.67 | prob.neutral | 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.