Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28824 | 86695;86696;86697 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| N2AB | 27183 | 81772;81773;81774 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| N2A | 26256 | 78991;78992;78993 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| N2B | 19759 | 59500;59501;59502 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| Novex-1 | 19884 | 59875;59876;59877 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| Novex-2 | 19951 | 60076;60077;60078 | chr2:178559662;178559661;178559660 | chr2:179424389;179424388;179424387 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs200709344  |
-0.304 | 1.0 | N | 0.828 | 0.407 | None | gnomAD-2.1.1 | 1.03915E-04 | None | None | None | None | N | None | 0 | 2.27092E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.56755E-04 | 1.41163E-04 |
| T/I | rs200709344 |
-0.304 | 1.0 | N | 0.828 | 0.407 | None | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 1.09649E-03 | 0 | 0 | None | 0 | 0 | 1.9107E-04 | 0 | 0 |
| T/I | rs200709344 |
-0.304 | 1.0 | N | 0.828 | 0.407 | None | gnomAD-4.0.0 | 1.24603E-04 | None | None | None | None | N | None | 0 | 1.16791E-04 | None | 0 | 0 | None | 0 | 0 | 1.54299E-04 | 0 | 1.76163E-04 |
| T/S | None | None | 0.999 | N | 0.503 | 0.249 | 0.242825505644 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43715E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1127 | likely_benign | 0.1242 | benign | -1.227 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.481891126 | None | None | N |
| T/C | 0.3248 | likely_benign | 0.3707 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/D | 0.5426 | ambiguous | 0.5968 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| T/E | 0.398 | ambiguous | 0.4288 | ambiguous | -0.409 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| T/F | 0.213 | likely_benign | 0.2345 | benign | -1.169 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| T/G | 0.3539 | ambiguous | 0.3903 | ambiguous | -1.576 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| T/H | 0.2204 | likely_benign | 0.2485 | benign | -1.756 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/I | 0.1009 | likely_benign | 0.1114 | benign | -0.346 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.461469467 | None | None | N |
| T/K | 0.2727 | likely_benign | 0.2995 | benign | -0.511 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.461215977 | None | None | N |
| T/L | 0.0886 | likely_benign | 0.0966 | benign | -0.346 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/M | 0.083 | likely_benign | 0.0843 | benign | -0.154 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/N | 0.139 | likely_benign | 0.1632 | benign | -0.852 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| T/P | 0.751 | likely_pathogenic | 0.7868 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.501262829 | None | None | N |
| T/Q | 0.2417 | likely_benign | 0.2555 | benign | -0.829 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| T/R | 0.2142 | likely_benign | 0.2384 | benign | -0.549 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.508466878 | None | None | N |
| T/S | 0.1211 | likely_benign | 0.1312 | benign | -1.233 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.507120084 | None | None | N |
| T/V | 0.0957 | likely_benign | 0.1015 | benign | -0.608 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| T/W | 0.6334 | likely_pathogenic | 0.6703 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/Y | 0.2631 | likely_benign | 0.2931 | benign | -0.807 | Destabilizing | 1.0 | D | 0.855 | 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.