Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22790 | 68593;68594;68595 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| N2AB | 21149 | 63670;63671;63672 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| N2A | 20222 | 60889;60890;60891 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| N2B | 13725 | 41398;41399;41400 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| Novex-1 | 13850 | 41773;41774;41775 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| Novex-2 | 13917 | 41974;41975;41976 | chr2:178578147;178578146;178578145 | chr2:179442874;179442873;179442872 |
| 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/R | None | None | 1.0 | D | 0.739 | 0.634 | 0.755482906886 | gnomAD-4.0.0 | 3.42272E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49873E-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 | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| W/C | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.552317726 | None | None | I |
| W/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| W/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| W/F | 0.8124 | likely_pathogenic | 0.8411 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | I |
| W/G | 0.9901 | likely_pathogenic | 0.993 | pathogenic | -3.199 | Highly Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.525059212 | None | None | I |
| W/H | 0.9961 | likely_pathogenic | 0.997 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| W/I | 0.9976 | likely_pathogenic | 0.9981 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| W/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| W/L | 0.9865 | likely_pathogenic | 0.9897 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.523031296 | None | None | I |
| W/M | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| W/N | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| W/P | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| W/R | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.539947463 | None | None | I |
| W/S | 0.9957 | likely_pathogenic | 0.9971 | pathogenic | -2.421 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.524298743 | None | None | I |
| W/T | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| W/V | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| W/Y | 0.9402 | likely_pathogenic | 0.9499 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.54 | neutral | None | None | None | None | I |
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.